HSC phenotype database

This database collates information on the hematopoietic phenotypes of knock-out mice as collected from the scientific literature. Entries have been curated by members of the Goodell Lab. For the most part, we have only included genes whose role in hematopoiesis has been tested by transplantation of bone marrow or stem cells from knockout mice into recipients. We encourage you to add your favorite genes and phenotypes into the database.

Rossi L, Lin KK, Boles, NC, Yang, L, King, KY, Jeong, M, Mayle, A, and MA Goodell (2012) Less is more: unveiling the functional core of hematopoietic stem cells through knockout mice. Cell Stem Cell.

Comments and suggestions are welcome! Please send them to us at HSCs@bcm.edu

A Pre-transplantation defect H Apparently normal
B Altered FL hemo I Increased engraftment
C Transplantation assays performed J Change in phenotypic HSC number
D Severe in vivo defect K Change in cell cycle activity
E Moderate in vivo defect L Criteria used for HSC phenotype definition
F Mild in vivo defect M Cell extrinsic effect
G Defect but only after second or third txt N Cancer
NC No change ND Not done



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Adar1Adenosine deaminase; transcript editingcKO (Mx1 and Tam)YESYESYES-+KSL 150+ CD48-Hyper IFN signaling; increased apoptosis; FL HSC lost19060901
AHRbHLH TFKOYESYES++KSLIncreased number of LSK; Pre-txt: Splenomegal and increased myeloid B-cells20874460
Akt1PTKKOYESYES-KSL 150+CD48-HSC number down in young mice, normal in older mice; Smaller body size when young20354168
Akt1 and Akt2PTKdKOYESYESYES+-FL HSC: LSK CD150+ CD48-Studied FL; Increased HSC quiescence; but poor repopulation activity. Double KO (dKO):Perinatal lethal; lower ROS in LSK of FL transplants; increased FL HSC frequency, but fewer FL LTCIC colonies20354168
Als2GEF for Rab5KO+KSL CD34-Older mice increased in HSC number17156857
Arhgap1GAPKOYESYESYESYES+-FL KLSIncreased apoptotic FL HSCs (Lin-Kit+); decreased overall fetal liver cellularity; lower BM cellularity (3-day-old); Decreased FL KLS number and frequency;Pre-txt: 93% of pups died within one week; anemia16174757
Atg7autophagycKO (Vav-Cre)YESYESYESYES-KSL CD150+CD48-Atypical Myeloproliferation; non competitive transplants died; Pre-txt: Progressive anemia, splenomegaly, lympadenopathy, death at 12 wks; Diminished FL reconstitution capability, not as severe as in adult21339326
AtmDNA damage checkpointKOYESYES+KSL- CD34- & KLS Thy1lo & KLS Tie2Increased intracellular ROS in the KO; NAC rescue the KLS engraftment defect15496926
Bmi1Polycomb complexKOYESYES-KSL Thy1loDefective engraftment; but normal frequency of FL HSC12714971
Bmi1Polycomb complexKOND-KSL CD34-Decreased HSC function; defective self renewal and increased differentiation; decreased growth in HPP-CFC in vitro assay15589172
c-MycTFcKO (Mx1Cre)YESYESYES++KSLIncrease in phenotypic HSCs; Pre-txt: Reduced myeloid and lymphoid lineages in PB, lifespan 2-3mo17637497
c-MycTFcKO (Mx1Cre)YESYESYES+NCKSL Flk2-Increased phenotypic HSC (KLS Flk2-) cells that are inhibited in differentiation capacity; Pre-txt: >30x decr in all lineages15545632
c-Myc/N-myc dKOTFcKO (Mx1Cre)YESYESYES++KSL CD150Decr BM cellularity > 90%; incr apoptosis; Pre-txt: Severe pancytopenia; death 12d post deletion19041778
Camk4PTKKOYESYES-+KSLDecreased progenitor number due to increased apoptosis, increased short term engraftment with decreased long term engraftment and no secondary engraftment16020540
CblE3 ubiquitin ligaseKOYESYES+KSL CD34- Flk2- CD150+YESIncreased HSC number and repopulating ability; increased proliferation in vitro, sustained ex vivo expansion; Myeloproliferative disease- see PMID 2095194418413713
Cbl and Cbl-bE3 ubiquitin ligaseCbl-b KO Cbl cKO (MMTV-Cre)YESYESYES+KSLYEShepatosplenomegaly; increased colonies in vitro; phenocopies some aspects of human myeloid malignancies; MPD-like myeloid leukemia; pre-txt: Extramedullary hematopoiesis in spleen, myeloid foci in liver20805496
Cbx2Chromobox polycomb-likeKOYESYESOverexpression supressed in vitro colony formation15589172
CD34cell surfaceKOYESYESYESDecreased ability to form colonies from BM; Defective myelo-differentiation from EB; decreased CFU-C in yolk sac culture; FL colony-forming assay decreased CFU-GM and BFU-E8555469
CD48GPI linked surface protein; SLAM familyKOYESYES-SP-KSLYESYESIncreased HSC quiescence likely due to lower IFN signaling in KO; dysregulated cytokine signaling ; Pak1 hyperactivation; lymphomas21576698
CD81cell surfaceKOYESYESNC+SP-KSL & KSL CD150+CD48-CD81 cluster induced quiescence (returning from proliferation); Perifosine (AKT inhibitor) rescued engraftment defect; Severe defect after 2ndry txt21931533
Cdc42Rho GTPasecKO (Mx1Cre)YESYESYES+KSLYESIncreased LSK, GMP in BM and decreased CMP and MEP inBM; expansion of myeloid cells; defective erythropoiesis; recipients died 8 weeks post txt; Myeloproliferative disorder; mice died ~21 days after induced deletion17702896
Cdc42GAPGAPKOYESYESYESLeads to a gain in Cdc42 activity; Anemic and low BM cellularity after deletion16174757
Cdkn1a (p21)CDK inhibitorKOYESYES+Lin-No homing defects of KO Sca1+Lin- BM cells; Increased short-term progenitor pool, no change in absolute HSC number; no difference in PB count or BM cellularity10710306
Cdkn1b (p27)CDK inhibitorKOYESYES+NCRadioprotection assay: better even at the 4th BMT; competitive BMT: KO BM out-compete WT cells; No apparent homing difference; Increased short-term progenitors with normal HSC numbers, increased repopulating abilities11062534
Cdkn1c p57(kip2)CDK inhibitorcKO (Mx1Cre)YESYES-+KSL CD150+ & KSL CD34-BM and BM KSL transplant21885021
Cdkn1c p57(kip2)CDK inhibitorKOYESYESNCNCKSLDefect in tertiary FL transplant21885020
Cdkn2a/Cdkn2d (p16Ink4a/p19Arf)CDK inhibitordKOYESYESSlightly increased serial repopulating ability; better survival to the 3rd round)15692066
cdkn2c (p18)CDK inhinitorKOYESYES++KSL CD34-Increased repopulating ability in primary and secondary transplants, increased HSC frequency15122268
Cdkn2d (p19Arf)CDK inhibitorKOYESYESNCKSLuse ArfGFP mice that tested Arf expression in KLS population: no p19 expression in KLS.15692066
CebpaTFcKO (Mx1Cre)YESYESYESYES+NCKSLYESIncreased repopulating ability in primary and secondary transplants; loss of granulopoiesis in spleen as well, so not a specific defect in exit from BM; phenotype linked to increased Bmi1 expression; most mice died within weeks, a few mice survived several months, but did not develop AML; Absence of mature grans in PB, myeloid diff. block 15589173
Cited2TFKOYESYESYESYESNCFL KSLReduced colony formation; Reconstitution potential significantly reduced; Decreased fetal HSC pool; Fetal liver progenitors decreased and defective17644732
cMplTPO receptorKOYESYESYESEither decreseaed HSC or decreased ability of MPP to proliferate; Decreased numbers of GMP and MEPs17347409
cMplTPO receptorKOYESYESDecreased CFU-S and progenitors9448308
cMybTFcKO (Mx1Cre)YESYESYES--KSL Flk2- Thyl+Depleted HSC pool, an abolishment of self-renewal, a slightly reduced proliferative capacity, and a complete loss of colony growth and multi-lineage differentiation on methylcellulose.19955420
CrebbpTranscription co-activatorKOYESYESYES-KSL CD34-YESDistinct role of CBP-/- Self-renewal defect, p300-/- differentiation defect. P300-/- decrease HSC with age; decreased colony formation from P300-/- ; Some mice evenutally succomb to lymphoma.12397173
Csf3rReceptor (CD114)KOYESNDDefective granulopoiesis with chronic neutropenia and a decrease in mature myeloid, neutrophil apoptosis increased; decreased in vitro colonies8934575
Ctnnb1Adhesion junction complexcKO (Vav-cre)YESYESNCKSL FLK2-Decreased repopulating ability; BCL-ABL infected Ctnnb1 deficient cells develop ALL instead of CML18068630
Ctnnb1Adhesion junction complexcKO (Mx1Cre)YESYESNCKSL14718516
Cxcl12Cytokine aka SDF1 aka PBSFKOYESYESYES-Repopulating unitsFailure of HSC to home to bone marrow during development; no BM seeding; Decreased HSCs by E18.512397173
Cxcr4receptor for Cxcl12KOYESYESNC+KSL CD48- Flk2-Increased engraftment activity when deleted after homing18378795
Cxcr4chemokinecKO (Mx1Cre)YESYESYES-+KSL CD34- or lower-SPProgenitor expansion, reduction in HSC quiescence; reduced in vitro colony formation; Pre-txt: Reduced B cells in BM, increased myeloid in PB17174120
CyclinD1/D2/D3cyclinTriple KOYESYESYESYES--FL KSL IL7Ra-Studied FL; decreased number of all progenitors (CMP, CLP, MEP, GMP, HSC) compartment in FL; Pre txt: Anemic embryos plus cardiac defect15315760
DicerRNA binding proteincKO (Osx-Cre)YESYESYESNC+KSL CD150+CD48-YESYESSevere phenotype: increased HSC proliferation and apoptosis; later development of MDS and leukemia. Increased apoptosis in HSC and KSL. Osteo-progenitor specific: reciprocal transplantation of WT cells into KO developed leukopenia and MDS; Pre txt: Impaired osteoblast differentiation; Leukopenia; MDS; develop myeloblastic tumor20305640
Dmap1transcription regulatorshRNA K-downYESYESReduced repopulation and in vitro proliferation; growth retardation and reduced CFUs20387133
Dnmt1DNA methyltransferasecKO (Mx1Cre)YESYESHSCs have reduced capacity for lymphoid differentiation19801979
Dnmt3aDNA methyltransferaseYESYES+-SP-KSL & KSL CD150+ & KSL CD34-Flk2-Reduced capacity for differentiation, enhanced self-renewal22138693
E47TFKOYESYES++KSL Flk2-Progressive loss of HSC self-renewal. Increased proliferation21273306
Egr1TFKOYESYESYES++KSL CD34-Increased engraftment in competitive limiting dilution assay with lower number of BM cells. Increased circulating KSL-Flk2- and KSL-CD34-;defect after tertiary txt18397757
Elf4TFKOYESYESYES+-KSL CD34- FLK2- & SP-KSLIncreased HSC pool; increased engraftment even after 2ndary transplant; CAFC assay LTC-IC showed more HSCs; Pre txt: Decreased MPP16530702
ErgTFErg (+/Mld2)YESYESYESYES-NCKSL CD150+ & KSL CD34 Flk2-YESMld2: an ENU point mutation of Erg. Mld2 has DNA binding but lacks transactivation activity. Mld2/Mld2 were embryonic lethal by E13.5, with defective definitive hematopoiesis at E10.5 ; Pre txt: Thrombocytopenia and mild leukopenia18500345
ErgTFErg (+/Mld2)YESYESStress-related phenotype and test: Erg(+/Mld2) HSC is not affected by aging, but transplantation; ST-HSC (KSL CD34+flk3-) activity found normal measured by CFU-S; Also 2ndary transplantation defect21673349
Erg/MplTFMpl-/- Erg (+/Mld2)YESNDMpl KO x Erg ENU point mutation; decreased KSL number; synergistic defect of hematopoiesis between Mpl and Erg; Pre Txt: Drastically decreased erythrocyte and platelet18500345
Erg/MplTFMpl-/- Erg (+/Mld2)YESYESYES-KSLFailed to radioprotect recipients; Pre txt: Anemic and death started 115 days after birth21673349
EwsRNA binding proteinKOYESYES-+KSL CD150+CD48- & KSL CD34-Loss of HSC quiescene; promotes early onset of senescence in hematopoietic progenitors, induction of p16INK4a, reduction of Ezh2, impaired DNA repair21030557
FADDadaptor moleculecKO (Mx1Cre)YESYES-KSLIn vitro colonies decreased, splenic CFU decreased, decreased in vitro macrophage production21115735
Fbxw7E3 ubiquitin ligasecKO (Mx1Cre)YESYES-+KSLDecreased progenitor numbers18474632
Fbxw7E3 ubiquitin ligasecKO (Mx1Cre)YESYES-+KSL18367647
FesPTKKOYESNDNot essential for production of erythrocytes, lymphocytes, granulocytes, or monocytes from EBs; Pre txt: 'Increased monocytes, neutrophils; hypocellular BM and thymus11021537
FesPTKKinase point mutationYESNDNo change in CFU; Pre txt: Slightly enlarged spleens10523632
Flt3growth factorKONDReduced progenitors, including CFU-GM, CFU-B, CFU-S. Reduced leukocyte cellularity; Reduced DC, NK cells10828034
FoxO1/FoxO3/FoxO4TFTriple cKO (Mx1Cre)YESYES-+KSL Flk2-Decreased ST-HSC percentage; increased apoptotic KSL and myeloid progenitors; increase ROS in HSC (KSL)17254970
FOXO3aTFKOYESYESNC+KSLWhen WBM was transplanted, defect only seen after serial transplantation; KSL also transplanted18371339
Foxp3TFKOYESYESYES-+KSL Flk2- CD150+CD48- CD34-Mutation leads to hyper mTOR signaling; Pre-txt: Progressive BM hypocellularity20972332
Gab2Receptor adaptor moleculeKOYESYESNCKSLReduced myeloid colony formation17374739
GabpaTFcKO (Mx1Cre)YESYESYESMajor impact on myeloid cell and My progenitors. HSCs not examined. Control partly via Gfi1; Pre txt: Reduction in myeloid cells in marrow21705494
Gata2TFHet KOYESYESYES--KSLDecreased HSC number due to increased apoptosis; increased CAFC number; Pre txt: Reduced HSC number in heterozygous mice15811962
Gata2TFHet KOYESYESYESReduced CFU-S11 from YS and AGM explants, and reduced engraftment in transplant; delayed HSC expansion after 5-FU treatment; hets show txt defect ; FL: Slight reduction in FL engraftment15466621
Gata3TFcKO (Vav-Cre)YESYESNCKSL CD150+ CD48-Normal HSC; No T-cell contribution from cKO21670475
Gfi1TFKOYESYESYES++KSL Flk2-In transplants: pancytopenic in the 1st recipients, and succumb to infection, owing to absence of granulocytes and presnce of immature myeloid; in adult chimera experiments: Gfi1-/- HSCs cannot sustain competition with WT HSCs in 2month old chimera mice15457180
Gfi1/Gfi1bTFdouble cKO (Mx1Cre)YESND-KSL CD150+ CD48-The inter-regulation between Gfi1 and Gfi1b: Gfi1 expression is up in gfi1b-/- HSC. Surviving HSC are Gfi1-/-, Gfi1b+/- cells in both blood and bone marrow; Pre-txt: HSC numbers drop after induction of deletion20826720
Gfi1bTFcKO (Mx1Cre)YESYES++KSL CD150+ CD48-YESThe increased engraftment of WBM transplant may reflect the higher HSC frequency in KO BM; Replating assay used to measure HSC self-renewal; increased ROS in HSCs; no difference in BM cellularity; increased HSC apoptotic frequency20826720
GhrhrGrowth hormone receptorPoint MutantYESYESNormal HSC15963853
Gja1Gap junction proteincKO (Mx1Cre)YESYESBlood cell formation is severely impaired after 5FU treatment, short term reduction of BM KSL after 5FU; increase in progenitor pool16531325
Gjb1 (Cx32)Gap junction membrane channel proteinKOYESND+-KSLIncreased HSC pool measured by phenotype; Pre txt: Decreased # of peripheral mononuclear cells, platelets and progenitors17629738
Gli1TFKOYESYES+-KSL CD34-Increased HSC pool20107231
Hempmbt-domain polycombKOYESYESYESYES--FL KSL CD150+ & KSL EPCR+reduced CFU-C; Pre txt: Die perinatally; FL: Reduced FL HSC21252303
Hif1alphaTFcKO (Mx1Cre)YESYESYES+Significantly increased engraftment after 1ry txt, and almost total loss after 2ry. Increased cycling, supported by 5FU sensitivity. Phenotype ormalized after cross to Vhl KO. Aging also examined.20804974
Hmgb3TFKOYESYESYESNCNCKSL IL7Ra-Decreased short-term progenitors with normal HSC numbers; increased expression of GATA2 and c-Myb in HSC; Pre txt: Erythrocythemic--> 10% more RBC15358624
HoxA7TFKOYESNDHoxa7 KO cells-transformed with MLL-GAS have prolonged latency of AML in recipient mice; Pre txt: Reticulocytosis and thrombocytopenia, but not anemic; reduced MEP15070702
Hoxa9TFKOYESYESYESFL: Defective engraftment of Hoxa9-/- FL HSCs17761289
Hoxa9TFKOYESNDMLL-GAS-transformed KO cells died of AML; Pre txt: Reduced CMP, CLP, GMP, and developed lymphopenia15070702
Hoxa9TFKOYESNDDecreased mature B cells; Pre txt: Reduced granulocytes, B and T lymphocytes in CBC; small spleen and thymuses9058712
Hoxa9TFKOYESYESNC-KSL Flk2-Sublethal KO has persistant pancytopenia16091451
hoxa9/hoxb3/hoxb4TFTriple KOYESYESYESYES+KSL 150+, KSL CD34-Increased HSC pool with decreased differentiation potential; decreased repopulation ability; Pre txt: Reduction in spleen size and spleen cellularity; FL: Defective engraftment of triple KO HSC17761289
Hoxb4TFKOYESYESYESYESNCKSL CD34-Decreased short-term repopulating ability and decreased proliferative potential. Slightly reduced CFU-E and BFU-E, reduced proliferative response of KSL, higher tolerance to 5FU; Pre-txt: Reduced cellularity in BM and spleen, reduced RBC in PB; FL: LSK marginally reduced and mild reduction in engraftment14962901
Id1TFKOYESYES++KSL CD34-YESDisrupted differentiation caused by niche environment. Decreased BM cellularity; altered cytokine and chemokine production in vitro and in vivo. Observe an increased moblization of myeloid cells into the PB; Pre txt: PB: decreased lymphocytes and platelets, increased granulocytes and monocytes; BM: decreased cellularity and increased HS19478045
IfnarCytokine receptorKOYESYESYESNCKL CD150+ CD48-Proliferation defect in response to IFNa- induced stress19212321
Igfbp2secreted proteinKOYESYES--KSL CD34- Flk2-YESNon-cell autonomous defect in primary and secondary KO recipients; KSL cells showed increased apoptosis21821709
Igsf5cell adhesion moleculeKONDNCKSL CD34-Normal HSC16982697
IL10anti-inflammatory cytokineKOYESYESYESSP-KSLDecreased repopulating ability; IL10 expressed in endosteal osteoblasts after 5FU treatment; culturing HSCs with IL10 prior to transplant led to improved engraftment; Pre-txt: BM slightly hypocellular17464085
Il2cytokineKOYESYESYES+KSL CD34-Increased HSC number and decreased repopulating ability; Pre txt: Pancytopenia12590705
Inpp5d (SHIP)Cell surface receptorKOYESYESYES++KSL Thy1-lo & KLS CD150+ CD48- & SP (higher KSL)Increased HSC number and decreased repopulating ability. KO cells home less efficiently and have lower expression of CXCR4 and VCAM-1 and lower rate of spontaneous apoptosis; Pre txt: Increased % and absolute spleen KSL16467196
Irf2TFKOYESYESYES-+SP-KSL & KSL CD150+CD41-CD48-Decreased HSC pool, repopulating ability, and increased prolifereation; Pre txt: Defects in lymphopoiesis and erythropoiesis19483695
IrgmGTPaseKOYESYES-+SP-KSLHyper interferon signalling; severely decreased repopulating ability of HSC; increased proliferation18371424
ItchE3 ubiquitin ligaseKOYESYES++KSL CD150+CD48-Itch involved in negative regulation of Notch signaling21478879
Itga4Cell adhesioncKO (Mx1Cre)YESYESKSL, CD150+ CD48-Decreased repopulating ability16357327
Jam2 (Jam-B)Junctional Adhesion molecule in Ig superfamilyKONDNCKSL CD34-Normal HSC16914739
Jam2 (Jam-B)Junctional Adhesion molecule in Ig superfamilyKOYESYESYES+YESJam-B expressed by stromal cells has heterotypic interactions with Jam-C on hematopoietic cells; Mobilization assay found 2x as many granulocytes in KO circulation; Reduced survival in repeated 5-FU exhaustion assay; 3X CFU-c in KO PB; Pre txt: Increase in BM cellularity, increase in frequency of progenitors21868569
Kitreceptor tyrosine kinaseW/Wv mutantYESNDReduced progenitor cells and erythroblasts, impaired response to SCF,1744174
Kitreceptor tyrosine kinaseW/Wv mutantYESNDYESCan serve as transplant recipient with little or no irradiation10560913
KitlcytokineSLd MutantYESReduced homing14662336
lig4DNA ligasePoint MutantYESYES-+FL KSL CD34-Flk2-Proliferative exhaustion during aging; KSL decrease; MPP decreased more than HSC17554302
Lkb1serine/threonine kinase,cKO (Rosa-creERt2)YESYESYES-KSL CD34?Flk2-Lkb1 maintains HSC quiescence and survival; Severe pancytopenia and subsequent lethality21124456
Lkb1serine/threonine kinasecKO (Mx1Cre)YESYESYES-+KSL CD150+ CD48?Rapid decrease in bone marrow cellularity and 93% died within 30?days after deletion; mechanisms involve mitochondrial defects, alterations in lipid and nucleotide metabolism; Pancytopenia, decline in all blood lineages21124451
Lkb1serine/threonine kinase,cKO (Mx1Cre)YESYESYES-KSL CD150+ CD48-CD41?HSCs profoundly depleted by 18?days after deletion21124450
Lnk (Sh2b3)intracellular adaptor proteinKOYESYESYES+KSLIncreased HSC; KO progenitors produced B, T, and myeloid lineages more efficiently than WT in comp. repopulation assay; CFU-S d12 in KO BM significantly increased in # and size compared to WT BM; double mutant with cKit abrogated phenotype; Pre txt: Increased number of progenitors in BM11805142
Lyl1/SCl doublebHLH TFKO and cKO (Mx1Cre)YESYES-+SP-KSLHigh apoptosis and rapid loss of all HSC and progeny19200805
MatkPTKKOND+SP-KSLHSC is examined as a control for other immune cells, looking in the spleen. Increased HSC pool; deficiency of the spleen cells in making IFN-g16574955
Mcl1anti-apoptosis proteincKO (Mx1Cre)YESYESYES-KSLTotal loss of HSC compartment; KO BM generate fewer CFU; increased apoptosis in all progenitor compartments in vitro; SCF induces expression of MCL1; Pre txt: Died 12-21 days post deletion; anemic and BM hypocellular15718471
Mds1-Evi1 (ME)PR domain-containing zinc-finger TFKO (exon1 LacZ KI)YESYESYES-+KSL CD150+ CD48-HPP-CF assay: 1/3 of cells in ME KO compared to WT BM; moderate short term engraftment; Pre txt: Increased leukocytes and fewer platelets21666053
MEF/ELF4TFKOYESYESYES+-KSL CD34- Flk2-& SP-KSLInreased HSC compartment with increased quiescence. Large number of HSCs correlates with faster 5FU recovery. KO cells are more radio-resistant. And see PMID 19128791 for dKO with p5316530702
Mef2cTFcKO (Mx1Cre)YESYESNCKLS Flk2-defect in lymphoid differentiation19169261
MLL1Chromatin modifier; trithorax groupKO and cKO(Vav-cre)YESYESYESPre txt: Decreased HSC number in FL; Adult hematopoiesis normal until transplant18371367
MLL1Chromatin modifier; trithorax groupcKO (Mx1Cre)YESYES+Severe defect in deleted animals before and after transplantation18371366
Msi2RNA binding proteinGene trapYESYES-Severe defects in HSC and progenitors21613258
MybTFENU Hypomorph in transactivation domainYESYESYES++KSLIncrreased contribution to PB but skewed toward myeloid; more HSC. Same patterns in 2ndary txt; increased HSC pool, differentiation defects; unchanged BM cellularity, 2-10x fewer splenocytes and thymocytes in BM, incr megakaryocytes in BM; in vitro fewer erythrocytes; pre txt: Thrombocytosis, megakaryocytosis, anemia, lymphopenia, no eosi15691758
Myst3co-activator and HATKOYESYESYESYES-FL KL AA4.1+Decreased fetal HSC pool and repopulating ability16651658
Myst3co-activator and HATKOYESYESYESYES-FL KSLDecreased fetal HSC pool and repopulating ability16702405
NecdinTFKOYESYES++KS CD34-Slightly reduced stress recovery19770359
NKAPTranscriptional repressorcKO (Mx1Cre)YESYESYES--CD150+CD41-CD48-Rapid loss of HSC with apopotosis and decreased proliferation; Increased p21Cip1/Waf1 and p19Ink4d; Die within 2 weeks20610818
Nr4a1/Nr4a3TFdKOYESND+KSL CD34-Flk2-YESIncreased LT-HSC phenotype and expansion of myeloid progenitors --> AML development; Pre txt: Hepato-splenomegaly, lymph- adenopathy, anemia and thrombocytopenia17515897
Numb/Numbladaptor proteinDouble cKO (Mx1cre)YESYESNCNCKSLNormal HSC; no change in CMP and CLP17513721
Opn (Spp1)Cell surface glycoproteinKOND++KSLTransplants of WT HSC into KO exhibit decreased survival after 3 weeks, KSL exhibited increased proliferation and number; Defective homing of WT HSCs in KO BM; exogenous Opn suppresses proliferation and differentiation of primitive HPCs in vitro,15845900
Opn (Spp1)Cell surface glycoproteinKOYESYESYESYES+NCKSL & KSL CD34-YESTransplant of KO BM cells showed significantly higher engraftment; In serial transplantation, OPN-/- HSCs lose advantage of numbers by 2ndary transplant; signficantly lower number of CFC in BM of KO; microenvironment provided by Opn-/- mice able to support greater # of primitive cells in a stroma-dependent manner; Increased HSC pool; incre15928197
p300transcription coactivatorKOYESYESYES-FL KSL CD34-Slightly less abundant FL progenitors assayed as CFC in methylcellulose; Hets show small reduction in self-renewal; impaired differentiation of KO12397173
Pbx1TF (TALE homeodomain)cKO (Tie2-cre & Mx1cre)YESYES-+KSL CD150+ CD48-Reduced TGFb signalling18462698
Pbx1TF (TALE homeodomain)KOYESYESYESYES-FL KSL AA4.1+Decreased repopulating ability of fetal HSC, slightly decreased fetal hsc (p=0.07); E15.5 KO embryos showed profound anemia11468159
Pcgf2 (mel18)polycomb group ring fingerKOND+-KSL Flk- & KSL CD34-Increased HSC self-renewal, percentage of HSC increased but absolute number did not,15183898
Pik3r1 / Pik3r2lipid kinaseHet dKOYESYESDecreased fetal progenitor pool and decreased repopulation ability; decreased KitL-induced and Akt induced prolif, reduced LT-repopulation in competitive repop assay16239435
Potb1Telomere binding proteinKOYESYESYES-+KSLAged KO presented hallmarks of telomere dysfunction; Low LTC-IC colonies and Low CFU colonies; increased apoptotic BM and peripheral blood; KO failed to engraft SCID mice; Pre-txt: Low bone marrow cellularity by 6 month old21948176
Prdm16TFKOYESYES-KSL CD34-Flk2- & KSL CD150+Flk2-Increase in HSC apoptosis and cycling21343612
PrnpMembrane glycoproteinKOYESYESDecreased serial repopulating ability; LT-HSC surface marker16467153
Ptenphosphoinositide phosphatasecKO (Mx1Cre)YESYES++KSL Flk2-YESDecreased HSC pool and repopulating ability; increased HSC mobilization; increased CLP post induced PTEN deletion; severe depletion of BM KSL; Myeloproliferative disorder/AML; ~30 days post deletion16633340
Pten/b-cateninWnt and Akt pathwaysdouble cKO (Mx1Cre)YESND+KSL CD34-YESNo change in frequency of CMP or CLP pop. increased KLS pop, but decreased KLSca1- pop; Developed leukemia 6 weeks post deletion21890648
PU.1TFcKO (Mx1Cre)YESYESYES-SP KSLDecrease in FL HSC by transplantation; block myelomonocytic differentiation in CMP/GMP;15914556
Puma (Bbc3)BCL2 binding componentKOYES+KSL CD34- CD150+HSC number NC before irradiation; after irradiation, decreased apoptosis and more efficient DNA repair and significantly increased HSC number relative to controls20177048
Rac1GTP binding proteincKO (Mx1Cre)YESYESNCLKDecreased homing leading to decreased repopulating ability16025125
rac1/rac2GTP binding proteindKOYESYES-NCLKIncreased HSC mobilization; neutrophilia16025125
rac2GTP binding proteinKOYESYES-LKDecreased repopulating ability15749928
Rae28Polycomb complexKOYESYESYES-NClimiting dilutionDecreased primary and serial txt ability; perinatal lethal, FL were characterized; FL cells also showed reduction in LTC-IC, methylcellulose, and CFU-S assay11901201
Rbcell cycle suppressorcKO (Mx1-Cre)YESYESpreamble of the next paper where they introduced the deletion in the mice prior transplantation and found the microenvironment effect to myeloproliferative disease16754850
Rbcell cycle suppressorcKO (Mx1Cre)YESYESYESNCKSL CD34-YESYESLoss of trabecular bone; increased spleen weight; increased KSL and Lin-Kit+Sca- BM cells; Myeloproliferative-like disease; synergistic interaction between Rb-/- microenvironment and Rb-/- myeloid cells: transplant recipients with this combination died within 11 weeks; 'Anemic after deletion; thrombocytosis; pan-leukocytosis17574022
Rbm15/Ott1TFcKO (Mx1Cre)YESND+KSLincreased KSL and myeloid progenitor pool and expansion of myeloid compartment; Decreased Lymphocytes17376872
Runx1TFcKO (Mx1Cre)YESYESIncreased HSC pool and increased quiescence, differentiation defects; increased CFU-meg, myeloid, mixed; elevated colony replating capacity up to 2 months14966519
Runx1TFcKO (Mx1Cre)YESYES+-SP KSL CD34-Found increased KO cells in the BM after competitive transplant, did not test PB18354160
RxraTF (nuclear hormone)cKO (Mx1Cre)YESYESNCLS25%-40% incr colony formation16888087
Sca1GPI surface proteinKOYESYESCFUHoming defect; no self renewal defect when tested by 5FU treatment of chimeras; Sca1 KO may have defective IFN response (Essers 2010)15963860
Sca1GPI surface proteinKOYESYESYESCFULymphocytosis, thrombocytopenia pre txt12393491
SclTFcKO (Mx1Cre)YESYESYES-KSLScl null mice die during embryogenesis from severe hematopoietic defects. cKO show very mild phenotype; 3-4X increase in number of LSK and LK cells in SCL-deleted mice12540851
SclTFcKO (Mx1Cre)YESYESYES-KSLSlightly decreased repopulating ability; Pre txt: LSK increase in number of LK cells in SCL-deleted mice14726374
Sfrp1Soluble proteinKOYESYESNC-KSL CD34-Flk2, CD150+CD48-Sfrp1 is required to maintain HSC homeostasis through extrinsic regulation of ?-catenin; No intrinsic effect of Sfrp1 loss on the number of HSCs or their ability to engraft irradiated recipients19664990
Shp2 (Ptpn11)PTKcKO (Mx1Cre)YESYESYES-+KSL CD34-Rapid loss of HCs and multi lineage defects; Shp2 regulates c-kit via Gata2; Pre txt: Loss of BM cellularity and of HSCs21450902
Sipa1 (Spa-1)GAPKOYESND+KSLYESIncreased HSC pool and myeloid leukemia; myleoid leukemia (resembling CML), minor group with MDS-like symptoms; Pre txt: Anemia, leukocytosis, marked splenomegaly, extramedullary hematopoiesis after 1 year12892713
Sirt1chromatin modifier (HDAC)KO and hetNDNC+KSLDecreased numbers of HSCs and increase in cycling; increased proliferation in KO in VITRO culture18184747
Skp2F-box unit of the SCF E3-ligaseKOYESYESYES+-KSL IL7R? CD34?Flk2-Enhanced HSC quiescence, increased HSC pool size, and maintenance; Pre txt: BM cellularity decreased 30%. LSK cells increased21502543
SlugTFKOYESYESNCKSL CD34-Flk2 & CD150+CD48- & KSL EPCR+Huge increase in primitive HPC and radioprotection ability and repopulation; CFU-S increased, KSL expansion during in vitro culture, Increased spleen KSL20032500
Smad4TFcKO (Mx1Cre)YESYESYES-NCKSLDecreased repopulating ability; Pre txt: Reduction in RBC and hemoglobin17353364
Smad5TFcKO (Mx1Cre)YESYESNCKSL CD34-Normal HSC in adult; KSL cells show similar response to Tgfb1 as T16896158
SmoReceptor; HH signalingcKO (Mx1Cre)YESYESNCKSL & KSL CD34- Flk2-Normal HSC19497284
SmoReceptor; HH signalingcKO (Mx1Cre)YESYESNCKSL CD150+ CD48- & KSL CD34- Flk2-Normal HSC19497283
Sox17TFKOYESYESYESYESYESNC-KSL Tie2Decreased fetal HSC pool and hematopoietic cells; no impact of deletion in adult HS; Pre txt: Decreased hematopoiesis in FL and neonates17655922
Stat5TFStat5ab/Rag2 triple KOYESYESDecreased repopulating ability12393407
Stat5TFStat5ab dKOYESYESKSL & KSL CD34- Flk2-2ndary transplant showed severely defective engraftment; KO KSL failed to respond to SCF and IL3 in vitro12393407
Stat5TFcKO (Mx1Cre)YESYES-+KSLNOCan use as host for WT cells with or without irradiation: KO cells cannot compete with WT19258595
Stat5TFN-terminal truncated protein expressed in Stat5ab null fetal liverYESYESYESFL txt; Decreased repopulating ability17976521
Stat5TFSTAT5ab dKOYESYESYESYESNCKSL & SPTer119+ cell expansion, T cell accumulation, and signs of autoimmune disease; Pre txt: Reduced BM cellularity; reduced WBC, lymphocyte count, and hemotocrit; FL: FL transplant normal without competitor, but fail to engraft with competitor BM11781228
Tcea1Transcription elongation factor S-IIKOYESYESYESNCFL KSLDecreased expansion of fetal HSC16581793
Tet2methylcytosine dioxygenaseGene trap and cKO (Mx1Cre)YESYESYES+KSL and KSL-CD150YESIncrease in HSC and progenitors pre-Txt and post-txt. Het phenotype. Aberrant myeloid and lymphoid differentiation. With age, KO mice develop myeloid malignancies reminiscent of human CMML21723201
Tet2methylcytosine dioxygenaseKO, cKO (Mx1Cre and Vav-cre)YESYESYES+KSL and KSL-CD150YESBM normal at 6 weeks, but ~20 weeks, massive increase in progentiors. Marked advantage in competitive Txt experiments. Remarkable re-plating phenotype. Mice eventually develop CMML-like disease. Het phenotype.21723200
Tet2methylcytosine dioxygenaseKOYESYESYES+KSLKO have higher KSL progenitors, have higher engraftment after txt in all lineages, and in vitro show enhanced differentiation into moncytes (in addition to sustained preservation of progenitors).21873190
Tgfb2cytokineKOYESYESYESYES-KSLDecreased serial repopulating ability from fetal HSC, decreased HSC in adult mice; Het KSL response to cytokine-related growth (flt3, tpo and scf) in CFC assay is reduced; Pre txt: Slightly reduced bone marrow cellularity14707111
Tgfbr1ReceptorcKO (Mx1Cre)YESYESNCKSL CD34-Normal HSC; KO HSCs non-responsive to Tgf-b treatment in vitro12842983
Tnfrsf1a (p55)ReceptorKOYESYESDecreased repopulating ability10562323
Trp53TFKOYESYES+KSL CD34-20-50% incr after competitive txt. Increased HSC number and repopulating ability12829028
Trp53TFKOYESYES-+KSL CD34- & KSL-SP & LSK CD150+ CD48-YES2x incrrease in engraftment after competitive txt of 1000 LSK. WBM 5x incr CAFC; LSK 5x incr LTC-IC; decreased apoptosis of KSL after 6.5Gy radiation; normal H2AX foci after 2Gy; Lymphoma after BMT19128791
Trp53TFHypermorphYESYES--SP Sca1Decreased HSC number in old mice17032926
Tsta3 (FX)Fucose synthaseKOYESYES-+KSLYESDecreased self-renewal and increased HSC proliferation; HSC localized farther from the endosteum of the calvarium marrow; myeloproliferation20573072
TxnipTranscription regulatorKOYESYES-+KSL CD34-Flk2- & CD150+ CD48-Decreased repopulating ability and decreased progenitor pool with age19625652
Ugt8aGlycosyltransferaseKONDKSLMobilization Is Severely Impaired16439213
VhlE3 ubiquitin ligaseKOYESYES+-KSL CD34- Flk2-Het shows partial phenotype; Cross KO with Hif1a KO normalized transplant activity20804974
Wnt3aWnt ligandKOYESYES-NCFL KSL Flk2-Reduction in emryonic HSC and decreased serial repopulating ability; diminished KSL in the 2ndary recipients; FL txt18832654
Zfp36RNA binding proteinKOYESYESYESNCKSL CD34-Flk2-, CD150+CD48-YESReactive granulopoiesis; increased ST HSC and MPP; little impact on HSC; WT BM transplanted into KO recapituated phenotype; Pre txt: Granulocyte hyperplasia21270394
Zfp36l2RNA-binding proteinKOYESYESYES-FL KSLDecreased repopulating ability and decreased progenitor pool; FL txt19633199
ZfxTFcKO (Mx1Cre)YESYESYES-KSL Flt3-Decreased HSC pool, impaired differentiation into lymphocytes; upregulation of genes that are induced by stress, inflammation and growth factors; Pre txt: Loss of HSC in BM and depletion of lymphocytes in the PB17448993