Phenotypes associated with this allele

• Allele Symbol: Runx1^tm3Spe
• Allele Name: targeted mutation 3, Nancy A Speck
• Allele ID: MGI:3043614
• Summary: 14 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Runx1^tm3Spe/Runx1^tm3Spe	involves: 129/Sv * C57BL/6	MGI:3043627
cn2	Runx1^tm2Spe/Runx1^tm3Spe Tg(KRT5-cre)5132Jlj/0	either: (involves: 129S4/SvJae * BALB/c * C57BL/6 * DBA/2J) or (involves: 129S4/SvJae * C57BL/6 * DBA/2J)	MGI:3709862
cn3	Runx1^tm3Spe/Runx1^tm3Spe Tg(KRT5-cre)5132Jlj/0	either: (involves: 129S4/SvJae * BALB/c * C57BL/6 * DBA/2J) or (involves: 129S4/SvJae * C57BL/6 * DBA/2J)	MGI:3709861
cn4	Mapt^tm2Arbr/? Runx1^tm3Spe/Runx1^tm3Spe H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6J * CBA/J	MGI:5702481
cn5	Etv6^tm1(RUNX1)Haho/Etv6^+ Runx1^tm3Spe/Runx1^tm3Spe Tg(Mx1-cre)1Cgn/0	involves: 129S1/Sv * 129S4/SvJae * C57BL/6 * CBA	MGI:4356085
cn6	Etv6^tm1(RUNX1)Haho/Etv6^+ Runx1^tm3Spe/Runx1^+ Tg(Mx1-cre)1Cgn/0	involves: 129S1/Sv * 129S4/SvJae * C57BL/6 * CBA	MGI:4356086
cn7	Runx1^tm3Spe/Runx1^tm3Spe Tg(Cdh5-cre)1Spe/0	involves: 129S1/SvImJ * 129S4/SvJae * C57BL/6	MGI:3836436
cn8	Runx1^tm3Spe/Runx1^tm3Spe Slc17a8^tm1(cre)Lowl/Slc17a8^+	involves: 129S4/SvJae	MGI:5471253
cn9	Runx1^tm3Spe/Runx1^tm3Spe Tg(VAV1-cre)1Graf/0	involves: 129S4/SvJae	MGI:3836437
cn10	Runx1^tm3Spe/Runx1^tm3Spe U2af1^tm1.1Hev/U2af1^+ Tg(Mx1-cre)1Cgn/0	involves: 129S4/SvJae * 129S6/SvEvTac * BALB/c * C57BL/6 * CBA/J	MGI:6273496
cn11	Slc17a8^tm1(cre)Lowl/Slc17a8^+ Runx1^tm3Spe/Runx1^tm3Spe	involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6NCr	MGI:5471252
cn12	Runx1^tm3Spe/Runx1^tm3Spe Spi1^tm2.1Dgt/Spi1^tm2.1Dgt Tg(Mx1-cre)1Cgn/0	involves: 129S4/SvJae * C57BL/6 * CBA	MGI:3793733
cn13	Runx1^tm3Spe/Runx1^tm3Spe Tg(Mx1-cre)1Cgn/0	involves: 129S4/SvJae * C57BL/6 * CBA	MGI:3793732
cn14	Mapt^tm2Arbr/? Runx1^tm3Spe/Runx1^tm1(cre/Esr1*)Ims	involves: 129S4/SvJae * C57BL/6NCrlj * CBA/JNCrlj	MGI:5702485

Genotype
MGI:3043627

hm1

• Allelic Composition: Runx1^tm3Spe/Runx1^tm3Spe
• Genetic Background: involves: 129/Sv * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

normal phenotype

no abnormal phenotype detected ( J:90431 )

• no apparent phenotype unless loxP flanked regions are deleted via Cre recombinase activity

Genotype
MGI:3709862

cn2

• Allelic Composition: Runx1^tm2Spe/Runx1^tm3Spe; Tg(KRT5-cre)5132Jlj/0
• Genetic Background: either: (involves: 129S4/SvJae * BALB/c * C57BL/6 * DBA/2J) or (involves: 129S4/SvJae * C57BL/6 * DBA/2J)

integument

increased curvature of auchene hairs ( J:116050 )

• majority of auchene hair type are altered in shape, many with more pronounced bends

abnormal coat appearance ( J:116050 )

• adult coat appears less dense and ruffled than controls

abnormal zigzag hair morphology ( J:116050 )

• about 90% of zigzag (ZZ) type hair show much less pronounced bends in 6-month old adults

• hair forms exhibit a variable number of bends compared to the three bend in control hairs; many do not have alternating bend patterns of control hairs, but have 2 bends in same direction

decreased curvature of zigzag hairs ( J:116050 )

• ~90% of zigzag (ZZ) type hair shows much less pronounced bends in 6-month old adults

Genotype
MGI:3709861

cn3

• Allelic Composition: Runx1^tm3Spe/Runx1^tm3Spe; Tg(KRT5-cre)5132Jlj/0
• Genetic Background: either: (involves: 129S4/SvJae * BALB/c * C57BL/6 * DBA/2J) or (involves: 129S4/SvJae * C57BL/6 * DBA/2J)

integument

increased curvature of auchene hairs ( J:116050 )

• majority of auchene hair type are altered in shape, many with more pronounced bends

abnormal coat appearance ( J:116050 )

• adult coat appears less dense and ruffled than controls

abnormal zigzag hair morphology ( J:116050 )

• about 90% of zigzag (ZZ) type hair show much less pronounced bends in 6-month old adults

• hair forms exhibit a variable number of bends compared to the three bend in control hairs; many do not have alternating bend patterns of control hairs, but have 2 bends in same direction

decreased curvature of zigzag hairs ( J:116050 )

• ~90% of zigzag (ZZ) type hair shows much less pronounced bends in 6-month old adults

Genotype
MGI:5702481

cn4

• Allelic Composition: Mapt^tm2Arbr/?; Runx1^tm3Spe/Runx1^tm3Spe; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6J * CBA/J

nervous system

abnormal sensory neuron innervation pattern ( J:226826 )

• reduction of sensory innervtion of the epidermic at P0

abnormal axon morphology ( J:226826 )

• reduction in epidermal nerve fiber density

Genotype
MGI:4356085

cn5

• Allelic Composition: Etv6^{tm1(RUNX1)Haho}/Etv6⁺; Runx1^tm3Spe/Runx1^tm3Spe; Tg(Mx1-cre)1Cgn/0
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * C57BL/6 * CBA

mortality/aging

premature death ( J:151639 )

• all mice die within 8 days of treatment with pIpC unlike control mice

hematopoietic system

anemia ( J:151639 )

• severe following pIpC treatment

decreased hematopoietic stem cell number ( J:151639 )

• following pIpC treatment

Genotype
MGI:4356086

cn6

• Allelic Composition: Etv6^{tm1(RUNX1)Haho}/Etv6⁺; Runx1^tm3Spe/Runx1⁺; Tg(Mx1-cre)1Cgn/0
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * C57BL/6 * CBA

hematopoietic system

increased hematopoietic stem cell number ( J:151639 )

• following treatment with pIpC, the number of progenitors, enriched hematopoietic stem cells, and pure hematopoietic stem cells are increased compared to similarly treated wild-type mice

Genotype
MGI:3836436

cn7

• Allelic Composition: Runx1^tm3Spe/Runx1^tm3Spe; Tg(Cdh5-cre)1Spe/0
• Genetic Background: involves: 129S1/SvImJ * 129S4/SvJae * C57BL/6

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:145700 )

• 65% of embryos die between E12.5 and E15.5

hematopoietic system

anemia ( J:145700 )

• 10% of E12.5 embryos have a pale liver due to anemia

abnormal hematopoietic stem cell morphology ( J:145700 )

• hematopoietic stem cell first derive as clusters of Kit^high cells from the endothelium of dorsal aorta and vitelline and umbilical arteries of E10.5 conceptus

• these clusters are absent in mutant E10.5 conceptus and there is a 90-fold decrease in the Kit^high cells

decreased hematopoietic stem cell number ( J:145700 )

• there is about a 8-fold decrease in CFUs from the yolk sac, vitelline and umbilical arteries, placenta and fetal liver

• over 99% of the CFUs that do develop in culture have one functional Runx1 allele

• decreased hematopoietic stem cell numbers are reflected in poor engraftment of mutant bone marrow cells into irradiated recipients

• CFUs cultured from bone marrow of transplant recipients are much reduced compared to controls and over 99% also have one functional Runx1 allele

cardiovascular system

internal hemorrhage ( J:145700 )

• 10% of E12.5 embryos have hemorrhaging within the central nervous system

liver/biliary system

pale liver ( J:145700 )

• 10% of E12.5 embryos have a pale liver due to anemia

Genotype
MGI:5471253

cn8

• Allelic Composition: Runx1^tm3Spe/Runx1^tm3Spe; Slc17a8^tm1(cre)Lowl/Slc17a8⁺
• Genetic Background: involves: 129S4/SvJae

behavior/neurological

behavior/neurological phenotype ( J:193903 )

N • thermal nociception, chemical nociception, and neuropathic mechanical pain are not markedly affected in mutants

N • mechanical allodynia is unaffected in mutants

hypoalgesia ( J:193903 )

• intraplantar injection of carrageenan still induces mechanical hypersensitivity in mutants, but a modest (significant) increase in mechanical thresholds compared to controls is observed (higher magnitude of mechanical stimulus required to evoke paw withdrawal)

Genotype
MGI:3836437

cn9

• Allelic Composition: Runx1^tm3Spe/Runx1^tm3Spe; Tg(VAV1-cre)1Graf/0
• Genetic Background: involves: 129S4/SvJae

hematopoietic system

abnormal common myeloid progenitor cell morphology ( J:145700 )

• increased numbers of CFU-G and CFU-GEMM can be derived from E15.5 fetal livers compared to controls

increased granulocyte number ( J:145700 )

• numbers are increased almost 3-fold

abnormal platelet morphology ( J:145700 )

• increased numbers of CFU-G and CFU-GEMM can be derived from E15.5 fetal livers compared to controls

decreased lymphocyte cell number ( J:145700 )

• lymphocyte numbers are reduced by about a third

decreased thymocyte number ( J:145700 )

• there is about a 10-fold reduction in thymocyte number

decreased double-positive T cell number ( J:145700 )

• numbers in the thymus are decreased by half

decreased B cell number ( J:145700 )

• B cell numbers are greatly reduced

increased monocyte cell number ( J:145700 )

• numbers are increased over 2-fold

increased hematopoietic stem cell number ( J:145700 )

• lin^- Sca-1⁺ kit⁺ cell numbers in the bone marrow are increased about 5 fold

• increased numbers of CFU-C can be derived from E15.5 fetal livers compared to controls

• the vast majority of the CFUs have both alleles of the Runx1 gene deleted

immune system

increased granulocyte number ( J:145700 )

• numbers are increased almost 3-fold

decreased lymphocyte cell number ( J:145700 )

• lymphocyte numbers are reduced by about a third

decreased thymocyte number ( J:145700 )

• there is about a 10-fold reduction in thymocyte number

decreased double-positive T cell number ( J:145700 )

• numbers in the thymus are decreased by half

decreased B cell number ( J:145700 )

• B cell numbers are greatly reduced

increased monocyte cell number ( J:145700 )

• numbers are increased over 2-fold

endocrine/exocrine glands

decreased thymocyte number ( J:145700 )

• there is about a 10-fold reduction in thymocyte number

Genotype
MGI:6273496

cn10

• Allelic Composition: Runx1^tm3Spe/Runx1^tm3Spe; U2af1^tm1.1Hev/U2af1⁺; Tg(Mx1-cre)1Cgn/0
• Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * BALB/c * C57BL/6 * CBA/J

hematopoietic system

abnormal blood cell morphology ( J:267082 )

• poly (IC) treated mice develop multilineage cytopenia

abnormal myeloid cell morphology ( J:267082 )

• mice develop low-level myeloid dysplasia after poly (IC) treatment

thrombocytopenia ( J:267082 )

• mice develop thrombocytopenia after poly (IC) treatment

increased myeloid cell number ( J:267082 )

• mice exhibit an increased percentage of myeloid cells and increased myeloid colony formation after poly (IC) treatment

abnormal erythroid lineage cell morphology ( J:267082 )

• mice develop low-level erythroid dysplasia after poly (IC) treatment

homeostasis/metabolism

increased incidence of tumors by chemical induction ( J:267082 )

• one mouse treated with ENU after poly (IC) treatment developed acute myeloid leukemia

• mice treated with ENU after poly (IC) treatment exhibit increased percentages of myeloid cells in the peripheral blood, enlarged spleen, and extramedullary hematopoiesis, occasional low-grade dysplasia in the erythroid and neutrophil lineages indicating the development of myeloproliferative neoplasm

mortality/aging

mortality/aging ( J:267082 )

N • poly (IC) treated mice have a normal life span and do not develop frank leukemia within 1.5 years after poly (IC) treatment

increased susceptibility to induced morbidity/mortality ( J:267082 )

• mice treated with ENU after poly (IC) treatment die prematurely with myeloid pathology

neoplasm

increased incidence of tumors by chemical induction ( J:267082 )

• one mouse treated with ENU after poly (IC) treatment developed acute myeloid leukemia

• mice treated with ENU after poly (IC) treatment exhibit increased percentages of myeloid cells in the peripheral blood, enlarged spleen, and extramedullary hematopoiesis, occasional low-grade dysplasia in the erythroid and neutrophil lineages indicating the development of myeloproliferative neoplasm

Genotype
MGI:5471252

cn11

• Allelic Composition: Slc17a8^tm1(cre)Lowl/Slc17a8⁺; Runx1^tm3Spe/Runx1^tm3Spe
• Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6NCr

nervous system

abnormal sensory neuron innervation pattern ( J:193903 )

• most sensory neurons innervating hair follicles of the hairy skin display tdTomato +ve unmyelinated circumferential endings in contrast to the longitudinal unmyelinated lanceolate endings observed in control skin; these circumferential endings are located ventral to tdTomato -ve, NF200 +ve myelinated (non-sensory) circumferential endings

• around hairs in the epidermis no decrease in tdTomato +ve free nerve endings is observed; morphology of dermal papillae-epidermis nerve endings in thick glabrous skin is unchanged

• innervation of the touch dome by tdTomato labeled myelinated mechanoreceptors is not changed

decreased sensory neuron number ( J:193903 )

• mutants show a marked loss of mechanosensitive neurons compared to controls, with a concurrent increase in the number of nonsensitive neurons

abnormal sympathetic neuron physiology ( J:193903 )

• average current density in remaining mechanosensitive small neurons is reduced compared to control mice, but no change in the average current density is detected in medium/large tdTomato-labeled neurons

Genotype
MGI:3793733

cn12

• Allelic Composition: Runx1^tm3Spe/Runx1^tm3Spe; Spi1^tm2.1Dgt/Spi1^tm2.1Dgt; Tg(Mx1-cre)1Cgn/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

immune system

decreased thymus weight ( J:131217 )

• after pIpC treatment, thymus weight is less than in wild-type mice but greater than in Runx1^tm3Spe/Runx1^tm3Spe Tg(Mx1-cre)1Cgn mice

increased spleen weight ( J:131217 )

• after pIpC treatment

increased granulocyte number ( J:131217 )

• after pIpC treatment, the number of Gr-1+Mac1+ cells in the spleen is increased 8-fold compared to in wild-type mice

decreased B cell number ( J:131217 )

• after pIpC treatment, the B cell compartment is reduced in the spleen and bone marrow

hematopoietic system

decreased thymus weight ( J:131217 )

• after pIpC treatment, thymus weight is less than in wild-type mice but greater than in Runx1^tm3Spe/Runx1^tm3Spe Tg(Mx1-cre)1Cgn mice

increased spleen weight ( J:131217 )

• after pIpC treatment

increased granulocyte number ( J:131217 )

• after pIpC treatment, the number of Gr-1+Mac1+ cells in the spleen is increased 8-fold compared to in wild-type mice

decreased B cell number ( J:131217 )

• after pIpC treatment, the B cell compartment is reduced in the spleen and bone marrow

endocrine/exocrine glands

decreased thymus weight ( J:131217 )

• after pIpC treatment, thymus weight is less than in wild-type mice but greater than in Runx1^tm3Spe/Runx1^tm3Spe Tg(Mx1-cre)1Cgn mice

growth/size/body

increased spleen weight ( J:131217 )

• after pIpC treatment

Genotype
MGI:3793732

cn13

• Allelic Composition: Runx1^tm3Spe/Runx1^tm3Spe; Tg(Mx1-cre)1Cgn/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

hematopoietic system

decreased thymus weight ( J:131217 )

• after pIpC treatment

increased spleen weight ( J:131217 )

• after pIpC treatment

decreased double-negative T cell number ( J:131217 )

• after pIpC treatment, the number of DN3 and DN4 T cells is decreased 3-fold compared to in wild-type mice

increased double-negative T cell number ( J:131217 )

• after pIpC treatment, the number of DN1 increased 3-fold compared to in wild-type mice

arrested T cell differentiation ( J:131217 )

• after pIpC treatment, T cell maturation is blocked at the DN2 to DN3 stage

abnormal myeloblast morphology/development ( J:151639 )

• following pIpC treatment, myeloid progenitors are increased compared to in untreated mice

thrombocytopenia ( J:131217 )

• two weeks after pIpC treatment

decreased B cell number ( J:151639 )

• following pIpC treatment, bone marrow B cells are lost unlike in untreated controls

decreased hematopoietic stem cell number ( J:151639 )

• following pIpC treatment, the number of long-term repopulating hematopoietic stem cells is decreased compared to in untreated controls

increased hematopoietic stem cell number ( J:151639 )

• following pIpC treatment, the hematopoietic stem cells- enriched LKS+ population is increased unlike in untreated controls

homeostasis/metabolism

increased incidence of tumors by chemical induction ( J:267082 )

• all mice die prematurely after receiving ENU, within 15 months after poly (IC) treatment, with myeloid pathology including increased percentages of myeloid cells in the peripheral blood, enlarged spleen, and extramedullary hematopoiesis, occasional low-grade dysplasia in the erythroid and neutrophil lineages indicating the development of myeloproliferative neoplasm

immune system

decreased thymus weight ( J:131217 )

• after pIpC treatment

increased spleen weight ( J:131217 )

• after pIpC treatment

decreased double-negative T cell number ( J:131217 )

• after pIpC treatment, the number of DN3 and DN4 T cells is decreased 3-fold compared to in wild-type mice

increased double-negative T cell number ( J:131217 )

• after pIpC treatment, the number of DN1 increased 3-fold compared to in wild-type mice

arrested T cell differentiation ( J:131217 )

• after pIpC treatment, T cell maturation is blocked at the DN2 to DN3 stage

decreased B cell number ( J:151639 )

• following pIpC treatment, bone marrow B cells are lost unlike in untreated controls

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:267082 )

• all mice die prematurely after receiving ENU, within 15 months after poly (IC) treatment

neoplasm

increased incidence of tumors by chemical induction ( J:267082 )

• all mice die prematurely after receiving ENU, within 15 months after poly (IC) treatment, with myeloid pathology including increased percentages of myeloid cells in the peripheral blood, enlarged spleen, and extramedullary hematopoiesis, occasional low-grade dysplasia in the erythroid and neutrophil lineages indicating the development of myeloproliferative neoplasm

endocrine/exocrine glands

decreased thymus weight ( J:131217 )

• after pIpC treatment

growth/size/body

increased spleen weight ( J:131217 )

• after pIpC treatment

Genotype
MGI:5702485

cn14

• Allelic Composition: Mapt^tm2Arbr/?; Runx1^tm3Spe/Runx1^{tm1(cre/Esr1*)Ims}
• Genetic Background: involves: 129S4/SvJae * C57BL/6NCrlj * CBA/JNCrlj

nervous system

abnormal mechanoreceptor morphology ( J:226826 )

• few or no tyrosine hydroxylase C-low threshold mechanoreceptors (C-LTMRs) are observed in P21 mice following tamoxifen administration at P2

• decrease in the number of longitudinal lanceolate endings (characteristic of C-LTMRs) in back hairy skin of P21 mice