Phenotypes associated with this allele

• Allele Symbol: Smarca4^tm1Mag
• Allele Name: targeted mutation 1, Terry Magnuson
• Allele ID: MGI:2386105
• Summary: 9 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Smarca4^tm1Mag/Smarca4^tm1Mag	involves: 129S/Sv * CD-1	MGI:4819610
ht2	Smarca4^tm1Mag/Smarca4^+	involves: 129S/Sv * C57BL/6J * CD-1	MGI:5763438
ht3	Smarca4^tm1Mag/Smarca4^+	involves: 129S/Sv * CD-1	MGI:4819611
ht4	Smarca4^enu1/Smarca4^tm1Mag	involves: 129S/Sv * C57BL/10 * CBA/Cbi	MGI:3626171
cn5	Smarca4^tm1Mag/Smarca4^tm1.2Pcn	involves: 129S2/SvPas	MGI:5582323
cn6	Smarca4^tm1.2Pcn/Smarca4^tm1Mag Tg(Lck-cre)1Cwi/? Tg(LCKprBCL2)36Sjk/?	involves: 129S/Sv * C57BL/6 * DBA/2	MGI:2677148
cn7	Smarca4^tm1.2Pcn/Smarca4^tm1Mag Tg(Lck-cre)1Cwi/?	involves: 129S/Sv * C57BL/6 * DBA/2	MGI:2677147
cx8	Rb1^tm1Tyj/Rb1^+ Smarca4^tm1Mag/Smarca4^+	involves: 129S/Sv * 129S2/SvPas * C57BL/6J * CD-1	MGI:5763442
cx9	Smarca2^tm1Mya/Smarca2^tm1Mya Smarca4^tm1Mag/Smarca4^+	involves: 129S/Sv * 129S2/SvPas * C57BL/6J * CD-1	MGI:5763443

Genotype
MGI:4819610

hm1

• Allelic Composition: Smarca4^tm1Mag/Smarca4^tm1Mag
• Genetic Background: involves: 129S/Sv * CD-1

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

mortality/aging

embryonic lethality before implantation, complete penetrance ( J:66861 )

• homozygous embryos are not found after E3.5

• embryos fail to hatch from zona pellucida or implant into uterus

Genotype
MGI:5763438

ht2

• Allelic Composition: Smarca4^tm1Mag/Smarca4⁺
• Genetic Background: involves: 129S/Sv * C57BL/6J * CD-1

neoplasm

increased mammary adenocarcinoma incidence ( J:132091 )

• 12 of 130 mice develop tumors, with a latency period from 7 to 19 months and median of 14 months; most are females with one male developing a mammary gland tumor

• tumors are subcutaneous and located along the ventral or ventral-lateral surface from the neck to the inguinal region

• tumors are mammary adenocarcinoma or carcinoma, exhibiting trabecular/papillary or well-differentiated squamous cell morphology

• all tumors are malignant

• tumors do not undergo loss of heterozygosity and exhibit genomic instability

increased osteosarcoma incidence ( J:132091 )

♂

endocrine/exocrine glands

increased mammary adenocarcinoma incidence ( J:132091 )

• 12 of 130 mice develop tumors, with a latency period from 7 to 19 months and median of 14 months; most are females with one male developing a mammary gland tumor

• tumors are subcutaneous and located along the ventral or ventral-lateral surface from the neck to the inguinal region

• tumors are mammary adenocarcinoma or carcinoma, exhibiting trabecular/papillary or well-differentiated squamous cell morphology

• all tumors are malignant

• tumors do not undergo loss of heterozygosity and exhibit genomic instability

integument

increased mammary adenocarcinoma incidence ( J:132091 )

• 12 of 130 mice develop tumors, with a latency period from 7 to 19 months and median of 14 months; most are females with one male developing a mammary gland tumor

• tumors are subcutaneous and located along the ventral or ventral-lateral surface from the neck to the inguinal region

• tumors are mammary adenocarcinoma or carcinoma, exhibiting trabecular/papillary or well-differentiated squamous cell morphology

• all tumors are malignant

• tumors do not undergo loss of heterozygosity and exhibit genomic instability

skeleton

increased osteosarcoma incidence ( J:132091 )

♂

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
breast cancer		DOID:1612	OMIM:114480	J:227323

Genotype
MGI:4819611

ht3

• Allelic Composition: Smarca4^tm1Mag/Smarca4⁺
• Genetic Background: involves: 129S/Sv * CD-1

mortality/aging

decreased survivor rate ( J:66861 )

• heterozygous pups survive at less than the expected 1:2:1 ratio

postnatal lethality, incomplete penetrance ( J:66861 )

• some heterozygous pups die immediately after birth

nervous system

exencephaly ( J:66861 )

• exencephaly is observed in some heterozygous embryos (5/36) at E16.5-E18.5

neoplasm

increased tumor incidence ( J:66861 )

• differentiated epithelial tumors are observed in some 16+ month old mice (3/20)

• large subcutaneous tumors appear in neck or inguinal regions

Genotype
MGI:3626171

ht4

• Allelic Composition: Smarca4^enu1/Smarca4^tm1Mag
• Genetic Background: involves: 129S/Sv * C57BL/10 * CBA/Cbi

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:103896 )

• mutants survive until midgestation but then die as a result of severe anemia; lethality begins at E11.5 and all mutants are dead by E14.5

hematopoietic system

abnormal blood cell morphology/development ( J:103896 )

• in Smarca1^enu1/Smarca^tm1Mag mutants, the developmental switch of erythropoiesis from the yolk sac to the fetal liver around E10.5 does not occur properly and yolk sac-derived erythrocytes persist for several days

• At E12.5, mutants still alive showed greatly diminished erythropoiesis in the fetal liver

abnormal erythrocyte morphology ( J:103896 )

• mutants have proerythroblasts and basophilic erythroblasts but lack mature polychromatic erythroblasts, orthochromatic erythroblasts and enucleated reticulocytes

liver/biliary system

abnormal liver morphology ( J:103896 )

• mutant fetal livers have a red speckled appearance or are completely pale

Genotype
MGI:5582323

cn5

• Allelic Composition: Smarca4^tm1Mag/Smarca4^tm1.2Pcn
• Genetic Background: involves: 129S2/SvPas

cellular

cellular phenotype ( J:66861 )

N • cre-transfected mouse embryonic fibroblasts exhibit normal cell viability

Genotype
MGI:2677148

cn6

• Allelic Composition: Smarca4^tm1.2Pcn/Smarca4^tm1Mag; Tg(Lck-cre)1Cwi/?; Tg(LCKprBCL2)36Sjk/?
• Genetic Background: involves: 129S/Sv * C57BL/6 * DBA/2

hematopoietic system

arrested T cell differentiation ( J:85191 )

• cells arrested in G1 phase of cell cycle leading to a 10 fold increase in cell numbers as opposed to animals lacking TgN(LCKprBCL2)36Sjk

immune system

arrested T cell differentiation ( J:85191 )

• cells arrested in G1 phase of cell cycle leading to a 10 fold increase in cell numbers as opposed to animals lacking TgN(LCKprBCL2)36Sjk

Genotype
MGI:2677147

cn7

• Allelic Composition: Smarca4^tm1.2Pcn/Smarca4^tm1Mag; Tg(Lck-cre)1Cwi/?
• Genetic Background: involves: 129S/Sv * C57BL/6 * DBA/2

hematopoietic system

thymus hypoplasia ( J:85191 )

• 40-100 fold reduction in cell numbers in the thymus

abnormal T cell differentiation ( J:85191 )

decreased double-negative T cell number ( J:85191 )

decreased double-positive T cell number ( J:85191 )

• absence of double positive T cells

arrested T cell differentiation ( J:85191 )

• T cells become arrested when cre inactivation occurs primarily at DN4 stage but sometimes earlier

• leads to expression of CD4 and to death of T cells

decreased CD4-positive, alpha-beta T cell number ( J:85191 )

• very small numbers of CD4+ cells

absent CD8-positive, alpha-beta T cells ( J:85191 )

• absence of CD8+ cells

immune system

thymus hypoplasia ( J:85191 )

• 40-100 fold reduction in cell numbers in the thymus

abnormal T cell differentiation ( J:85191 )

decreased double-negative T cell number ( J:85191 )

decreased double-positive T cell number ( J:85191 )

• absence of double positive T cells

arrested T cell differentiation ( J:85191 )

• T cells become arrested when cre inactivation occurs primarily at DN4 stage but sometimes earlier

• leads to expression of CD4 and to death of T cells

decreased CD4-positive, alpha-beta T cell number ( J:85191 )

• very small numbers of CD4+ cells

absent CD8-positive, alpha-beta T cells ( J:85191 )

• absence of CD8+ cells

endocrine/exocrine glands

thymus hypoplasia ( J:85191 )

• 40-100 fold reduction in cell numbers in the thymus

Genotype
MGI:5763442

cx8

• Allelic Composition: Rb1^tm1Tyj/Rb1⁺; Smarca4^tm1Mag/Smarca4⁺
• Genetic Background: involves: 129S/Sv * 129S2/SvPas * C57BL/6J * CD-1

mortality/aging

premature death ( J:132091 )

• mice die by 14 months of age due to pituitary tumors

neoplasm

increased pituitary gland tumor incidence ( J:132091 )

• mice develop pituitary tumors with 100% penetrance and median latency period of 12-13 months

endocrine/exocrine glands

increased pituitary gland tumor incidence ( J:132091 )

• mice develop pituitary tumors with 100% penetrance and median latency period of 12-13 months

nervous system

increased pituitary gland tumor incidence ( J:132091 )

• mice develop pituitary tumors with 100% penetrance and median latency period of 12-13 months

Genotype
MGI:5763443

cx9

• Allelic Composition: Smarca2^tm1Mya/Smarca2^tm1Mya; Smarca4^tm1Mag/Smarca4⁺
• Genetic Background: involves: 129S/Sv * 129S2/SvPas * C57BL/6J * CD-1

endocrine/exocrine glands

increased mammary gland tumor incidence ( J:132091 )

♀ • one female develops a mammary tumor at 14 months of age

integument

increased mammary gland tumor incidence ( J:132091 )

♀ • one female develops a mammary tumor at 14 months of age

neoplasm

increased mammary gland tumor incidence ( J:132091 )

♀ • one female develops a mammary tumor at 14 months of age

increased hemangiosarcoma incidence ( J:132091 )

♂ • one male develops a hemangiosarcoma at 16 months of age