Phenotypes associated with this allele

• Allele Symbol: Etv6⁺
• Allele Name: wild type
• Allele ID: MGI:2434320
• Summary: 14 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Etv6^em1(IMPC)Rbrc/Etv6^+	C57BL/6NJcl-Etv6^em1(IMPC)Rbrc/Rbrc	MGI:7414878
ht2	Etv6^tm1.1(RUNX1,hsb5)Lvdw/Etv6^+	involves: 129P2/OlaHsd * 129S4/SvJaeSor * 129S5/SvEvBrd * C57BL/6J	MGI:5284839
ht3	Etv6^tm1.1(RUNX1,hsb5)Lvdw/Etv6^+	involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6J	MGI:5284840
ht4	Etv6^tm3(NTRK3)Sho/Etv6^+	involves: 129S1/Sv	MGI:3772797
ht5	Etv6^em3Knic/Etv6^+	involves: C57BL/6J	MGI:7569045
cn6	Etv6^tm1.1(RUNX1,hsb5)Lvdw/Etv6^+ TgTn(sb-T2/Onc)76Dla/0	involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6J * FVB/N	MGI:5284841
cn7	Etv6^tm1(RUNX1)Haho/Etv6^+ Runx1^tm3Spe/Runx1^tm3Spe Tg(Mx1-cre)1Cgn/0	involves: 129S1/Sv * 129S4/SvJae * C57BL/6 * CBA	MGI:4356085
cn8	Etv6^tm1(RUNX1)Haho/Etv6^+ Runx1^tm3Spe/Runx1^+ Tg(Mx1-cre)1Cgn/0	involves: 129S1/Sv * 129S4/SvJae * C57BL/6 * CBA	MGI:4356086
cn9	Etv6^tm1(RUNX1)Haho/Etv6^+ Tg(VAV1-cre)1Graf/0	involves: 129S1/Sv * C57BL/6	MGI:4356083
cn10	Etv6^tm1(RUNX1)Haho/Etv6^+ Tg(CD2-icre)4Kio/0	involves: 129S1/Sv * C57BL/6 * C57BL/10 * CBA/Ca	MGI:4356081
cn11	Etv6^tm1(RUNX1)Haho/Etv6^+ Tg(Mx1-cre)1Cgn/0	involves: 129S1/Sv * C57BL/6 * CBA	MGI:4356082
cn12	Etv6^tm1(RUNX1)Haho/Etv6^+ Tg(Gata1-cre)1Sho/0	involves: 129S1/Sv * C57BL/6 * CD-1 * Swiss Webster	MGI:4356080
cn13	Etv6^tm3(NTRK3)Sho/Etv6^+ Tg(Wap-cre)11738Mam/0	involves: 129S1/Sv * C57BL/6 * SJL	MGI:3772798
cn14	Etv6^tm3(NTRK3)Sho/Etv6^+ Tg(MMTV-cre)FMam/0	involves: 129S1/Sv * FVB/N	MGI:3772799

Genotype
MGI:7414878

ht1

• Allelic Composition: Etv6^{em1(IMPC)Rbrc}/Etv6⁺
• Genetic Background: C57BL/6NJcl-Etv6^{em1(IMPC)Rbrc}/Rbrc

Data Sources

IMPC Data for Etv6

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

cardiovascular system

abnormal heart morphology ( J:211773 )

IMPC - RBRC

increased heart atrium size ( J:211773 )

IMPC - RBRC

abnormal heart shape ( J:211773 )

♂

IMPC - RBRC

abnormal heart weight ( J:211773 )

♀

IMPC - RBRC

enlarged heart ( J:211773 )

IMPC - RBRC

growth/size/body

enlarged heart ( J:211773 )

IMPC - RBRC

increased kidney weight ( J:211773 )

♀

IMPC - RBRC

increased spleen weight ( J:211773 )

♀

IMPC - RBRC

hematopoietic system

increased spleen weight ( J:211773 )

♀

IMPC - RBRC

decreased erythrocyte cell number ( J:211773 )

IMPC - RBRC

thrombocytopenia ( J:211773 )

IMPC - RBRC

increased large unstained cell number ( J:211773 )

IMPC - RBRC

homeostasis/metabolism

increased blood uric acid level ( J:211773 )

♀

IMPC - RBRC

decreased circulating cholesterol level ( J:211773 )

♀

IMPC - RBRC

decreased circulating HDL cholesterol level ( J:211773 )

♀

IMPC - RBRC

decreased circulating calcium level ( J:211773 )

♀

IMPC - RBRC

decreased circulating serum albumin level ( J:211773 )

♀

IMPC - RBRC

decreased circulating total protein level ( J:211773 )

♀

IMPC - RBRC

immune system

increased spleen weight ( J:211773 )

♀

IMPC - RBRC

increased large unstained cell number ( J:211773 )

IMPC - RBRC

liver/biliary system

abnormal liver morphology ( J:211773 )

IMPC - RBRC

small liver ( J:211773 )

IMPC - RBRC

renal/urinary system

increased kidney weight ( J:211773 )

♀

IMPC - RBRC

skeleton

decreased bone mineral density ( J:211773 )

♀

IMPC - RBRC

Genotype
MGI:5284839

ht2

• Allelic Composition: Etv6^{tm1.1(RUNX1,hsb5)Lvdw}/Etv6⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJaeSor * 129S5/SvEvBrd * C57BL/6J

mortality/aging

preweaning lethality, incomplete penetrance ( J:174866 )

• Background Sensitivity: fewer than expected mice are produced with increased C57BL/6J background contribution

Genotype
MGI:5284840

ht3

• Allelic Composition: Etv6^{tm1.1(RUNX1,hsb5)Lvdw}/Etv6⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6J

neoplasm

increased leukemia incidence ( J:174866 )

• 68% of mice develop T-cell acute lymphocytic leukemia with occasional cases of acute myeloid leukemia and B-cell precursor acute lymphoblastic leukemia (BCP-ALL; 13%)

Genotype
MGI:3772797

ht4

• Allelic Composition: Etv6^{tm3(NTRK3)Sho}/Etv6⁺
• Genetic Background: involves: 129S1/Sv

neoplasm

increased mammary gland tumor incidence ( J:130323 )

• some female and very rarely males develop mammary gland tumors due to the leakiness of the allele

• however, mice are otherwise indistinguishable from wild-type mice

endocrine/exocrine glands

increased mammary gland tumor incidence ( J:130323 )

• some female and very rarely males develop mammary gland tumors due to the leakiness of the allele

• however, mice are otherwise indistinguishable from wild-type mice

integument

increased mammary gland tumor incidence ( J:130323 )

• some female and very rarely males develop mammary gland tumors due to the leakiness of the allele

• however, mice are otherwise indistinguishable from wild-type mice

Genotype
MGI:7569045

ht5

• Allelic Composition: Etv6^em3Knic/Etv6⁺
• Genetic Background: involves: C57BL/6J

hematopoietic system

hematopoietic system phenotype ( J:342774 )

N • normal platelet numbers at age 3 months

N • normal numbers and ratios of mature myeloid cells at age 3 months

N • normal bone marrow cellularity at age 3 months

N • normal hematopoietic cell cycling and cell death at age 3 months

abnormal hemopoiesis ( J:342774 )

• functionally impaired hematopoietic stem and precursor cells (HSPCs): reduced contribution to B220+ CD19+ B cells and Gr1+ myeloid cells in competitive transplantation experiments

• normal T cell contribution in competitive transplantation experiments

abnormal platelet shape ( J:342774 )

• more rounded shape with greater surface area at age 3 months

abnormal B cell number ( J:342774 )

• increased proportion of B220+ CD19+ B cells in spleen, bone marrow and peripheral blood at age 3 months

abnormal hematopoietic precursor cell morphology ( J:342774 )

• increase in multipotent precursor 3 (MPP3) cell proportion and number and decrease in MPP4 cell proportion at age 3 months

• normal MPP4 cell number at age 3 months

abnormal common myeloid progenitor cell morphology ( J:342774 )

• decreased proportion of CMP cells at age 3 months

• normal number of CMP cells at age 3 months

homeostasis/metabolism

impaired blood coagulation ( J:342774 )

• delayed clot reaction at age 3 months

immune system

abnormal B cell number ( J:342774 )

• increased proportion of B220+ CD19+ B cells in spleen, bone marrow and peripheral blood at age 3 months

Genotype
MGI:5284841

cn6

• Allelic Composition: Etv6^{tm1.1(RUNX1,hsb5)Lvdw}/Etv6⁺; TgTn(sb-T2/Onc)76Dla/0
• Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6J * FVB/N

mortality/aging

premature death ( J:174866 )

• mice exhibit increased decreased survival compared with control mice

neoplasm

increased leukemia incidence ( J:174866 )

• mice exhibit increased incidence of leukemia compared with control mice

• predominantly acute myeloid leukemia (AML; 46%) with some T cell acute lymphocytic leukemia (T-ALL; 28%) and B-cell precursor acute lymphoblastic leukemia (BCP-ALL; 21%)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
acute lymphoblastic leukemia		DOID:9952	OMIM:247640 OMIM:613065	J:174866

Genotype
MGI:4356085

cn7

• 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

cn8

• 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:4356083

cn9

• Allelic Composition: Etv6^{tm1(RUNX1)Haho}/Etv6⁺; Tg(VAV1-cre)1Graf/0
• Genetic Background: involves: 129S1/Sv * C57BL/6

hematopoietic system

decreased pro-B cell number ( J:151639 )

• mildly

arrested B cell differentiation ( J:151639 )

• transplantation of fetal liver cells into Rag null mice exhibit a decrease in early B cells confirms a specific adult block in B cell development

abnormal myeloblast morphology/development ( J:151639 )

• myeloid progenitors are increased compared to in untreated mice

decreased B cell number ( J:151639 )

• early be cells is almost completely depleted

decreased pre-B cell number ( J:151639 )

• mildly

increased hematopoietic stem cell number ( J:151639 )

immune system

decreased pro-B cell number ( J:151639 )

• mildly

arrested B cell differentiation ( J:151639 )

• transplantation of fetal liver cells into Rag null mice exhibit a decrease in early B cells confirms a specific adult block in B cell development

decreased B cell number ( J:151639 )

• early be cells is almost completely depleted

decreased pre-B cell number ( J:151639 )

• mildly

Genotype
MGI:4356081

cn10

• Allelic Composition: Etv6^{tm1(RUNX1)Haho}/Etv6⁺; Tg(CD2-icre)4Kio/0
• Genetic Background: involves: 129S1/Sv * C57BL/6 * C57BL/10 * CBA/Ca

immune system

immune system phenotype ( J:151639 )

N • T and B cell development is normal

Genotype
MGI:4356082

cn11

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

hematopoietic system

abnormal definitive hematopoiesis ( J:151639 )

• following induction with pIpC, CFU-GMs (colony forming units Granulocyte-Macrophage, myeloid) are increased and CFU-IL-7 (early B-lineage committed, lymphoid) are decreased compared to in control mice

abnormal common myeloid progenitor cell morphology ( J:151639 )

• following induction with pIpC, CFU-GEMMs (colony forming units Granulocyte, Erythroid, Macrophage, Megakaryocyte) are increased compared to in control mice

abnormal lymphopoiesis ( J:151639 )

• in repopulation assays, bone marrow cells from pIpC treated lead to reduced donor-derived lymphocyte numbers compared to when untreated cells are used

myeloid hyperplasia ( J:151639 )

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

abnormal common lymphocyte progenitor cell morphology ( J:151639 )

• following pIpC treatment, common lymphoid progenitors and lymphoid-primed multipotential progenitor are decreased compared to in untreated mice

decreased erythroid progenitor cell number ( J:151639 )

• following induction with pIpC, BFU-Es (Burst-forming erythroid; early erythroid-committed, myeloid) are decreased compared to in controls

decreased neutrophil cell number ( J:151639 )

• mild to moderate following pIpC treatment

thrombocytopenia ( J:151639 )

• mild to moderate following pIpC treatment

decreased lymphocyte cell number ( J:151639 )

• mild to moderate following pIpC treatment

decreased B cell number ( J:151639 )

• B cells are gradually lost following pIpC treatment

increased hematopoietic stem cell number ( J:151639 )

• following pIpC treatment, the long term repopulating hematopoietic stem cells are increased 10-fold compared to in untreated mice

• in repopulation assays, bone marrow cells from pIpC treated lead to a 10-fold increase in long term repopulation hematopoietic stem cells compared to when untreated cells are used

• following pIpC treatment, the total number of cycling hematopoietic stem cells compared to in untreated mice

abnormal bone marrow cell physiology ( J:151639 )

• the proportion of quiescent (G0) hematopoietic stem cells in the bone marrow of pIpC-treated mice is increased 17-fold compared with untreated controls

• following serum and cytokine withdrawal, the hematopoietic stem cells in the bone marrow of pIpC-treated mice exhibit increased apoptosis compared with untreated controls

• following induction with pIpC, hematopoietic stem cells used in serial transplantation experiments exhaust earlier than wild-type cells

neoplasm

increased incidence of tumors by chemical induction ( J:151639 )

• following induction with pIpC and treatment with ENU, latency is shortened and a higher proportion of mice develop malignacy compared to control mice

increased leukemia incidence ( J:151639 )

• following induction with pIpC and treatment with ENU, mice develop aggressive T cell leukemias with high blast counts and replacement of normal bone marrow with CD4+ CD8+ lymphoblasts unlike in control mice

homeostasis/metabolism

increased incidence of tumors by chemical induction ( J:151639 )

• following induction with pIpC and treatment with ENU, latency is shortened and a higher proportion of mice develop malignacy compared to control mice

immune system

immune system phenotype ( J:151639 )

N • T cell development is normal following pIpC induction

abnormal lymphopoiesis ( J:151639 )

• in repopulation assays, bone marrow cells from pIpC treated lead to reduced donor-derived lymphocyte numbers compared to when untreated cells are used

myeloid hyperplasia ( J:151639 )

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

decreased neutrophil cell number ( J:151639 )

• mild to moderate following pIpC treatment

decreased lymphocyte cell number ( J:151639 )

• mild to moderate following pIpC treatment

decreased B cell number ( J:151639 )

• B cells are gradually lost following pIpC treatment

Genotype
MGI:4356080

cn12

• Allelic Composition: Etv6^{tm1(RUNX1)Haho}/Etv6⁺; Tg(Gata1-cre)1Sho/0
• Genetic Background: involves: 129S1/Sv * C57BL/6 * CD-1 * Swiss Webster

mortality/aging

postnatal lethality ( J:151639 )

• mice die postnatally due to severe submucosal lymphedema of the small intestine

embryonic lethality during organogenesis, incomplete penetrance ( J:151639 )

• in 30% of mice die before E10.5

immune system

immune system phenotype ( J:151639 )

N • B cell development is normal with normal numbers of mature B cells

abnormal B cell differentiation ( J:151639 )

• the number of IL7 colony progenitors that form from E14.5 fetal liver cells is increased compared to when wild-type fetal liver cells are similarly treated

• serial replating of E14.5 fetal liver cells with IL7, SCF (stem cell factor), and Flt3L (Flt3 ligand) leads to an increase in colony numbers compared to when wild-type fetal liver cells are similarly treated

• however, fetal liver cell generated colonies are factor-dependent and not transformed

• bone marrow transplanted into irradiated Rag null mice fail to reconstitute the lymphocyte, pro-B cell, pre-B cells and IgM+ B cell compartments unlike when wild-type cells are transplanted

digestive/alimentary system

intestinal edema ( J:151639 )

• mice die postnatally due to severe submucosal lymphedema of the small intestine

growth/size/body

postnatal growth retardation ( J:151639 )

• mice fail to thrive

homeostasis/metabolism

intestinal edema ( J:151639 )

• mice die postnatally due to severe submucosal lymphedema of the small intestine

neoplasm

neoplasm ( J:151639 )

N • mice do not develop tumors

embryo

embryo phenotype ( J:151639 )

N • unlike in other mice lacking Etv6 expression, yolk vascular development is normal in mice that survive beyond E10.5

hematopoietic system

abnormal B cell differentiation ( J:151639 )

• the number of IL7 colony progenitors that form from E14.5 fetal liver cells is increased compared to when wild-type fetal liver cells are similarly treated

• serial replating of E14.5 fetal liver cells with IL7, SCF (stem cell factor), and Flt3L (Flt3 ligand) leads to an increase in colony numbers compared to when wild-type fetal liver cells are similarly treated

• however, fetal liver cell generated colonies are factor-dependent and not transformed

• bone marrow transplanted into irradiated Rag null mice fail to reconstitute the lymphocyte, pro-B cell, pre-B cells and IgM+ B cell compartments unlike when wild-type cells are transplanted

Genotype
MGI:3772798

cn13

• Allelic Composition: Etv6^{tm3(NTRK3)Sho}/Etv6⁺; Tg(Wap-cre)11738Mam/0
• Genetic Background: involves: 129S1/Sv * C57BL/6 * SJL

neoplasm

increased mammary gland tumor incidence ( J:130323 )

• nulliparous and parous females develop multifocal mammary tumors as early as 4 months of age with preceding lobuloalveolar hyperplasia

• tumors exhibit heterogeneous morphology and rate of progression but are highly invasive and transplantable

• on occasion transplanted tumors exhibit metastasis to the lymph nodes and lungs

• mammary tumors are derived from committed alveaolar bipotent or CD61+ cells

endocrine/exocrine glands

mammary gland alveolar hyperplasia ( J:130323 )

♀ • nulliparous and parous female mice exhibit lobuloalveolar hyperplasia prior to developing mammary tumors

increased mammary gland tumor incidence ( J:130323 )

• nulliparous and parous females develop multifocal mammary tumors as early as 4 months of age with preceding lobuloalveolar hyperplasia

• tumors exhibit heterogeneous morphology and rate of progression but are highly invasive and transplantable

• on occasion transplanted tumors exhibit metastasis to the lymph nodes and lungs

• mammary tumors are derived from committed alveaolar bipotent or CD61+ cells

integument

mammary gland alveolar hyperplasia ( J:130323 )

♀ • nulliparous and parous female mice exhibit lobuloalveolar hyperplasia prior to developing mammary tumors

increased mammary gland tumor incidence ( J:130323 )

• nulliparous and parous females develop multifocal mammary tumors as early as 4 months of age with preceding lobuloalveolar hyperplasia

• tumors exhibit heterogeneous morphology and rate of progression but are highly invasive and transplantable

• on occasion transplanted tumors exhibit metastasis to the lymph nodes and lungs

• mammary tumors are derived from committed alveaolar bipotent or CD61+ cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
breast cancer		DOID:1612	OMIM:114480	J:130323

Genotype
MGI:3772799

cn14

• Allelic Composition: Etv6^{tm3(NTRK3)Sho}/Etv6⁺; Tg(MMTV-cre)FMam/0
• Genetic Background: involves: 129S1/Sv * FVB/N

mortality/aging

premature death ( J:130323 )

• mice develop lethal myeloproliferative disease several weeks after birth

neoplasm

increased chronic myelocytic leukemia incidence ( J:130323 )

• mice develop lethal myeloproliferative disease several weeks after birth