Phenotypes associated with this allele

• Allele Symbol: Smarca4⁺
• Allele Name: wild type
• Allele ID: MGI:2435573
• Summary: 9 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Smarca4^tm1Tich/Smarca4^+	involves: 129	MGI:3830515
ht2	Smarca4^tm1.1Pcn/Smarca4^+	involves: 129S2/SvPas * C57BL/6 * DBA/2	MGI:5009693
ht3	Smarca4^tm1Mag/Smarca4^+	involves: 129S/Sv * C57BL/6J * CD-1	MGI:5763438
ht4	Smarca4^tm1Mag/Smarca4^+	involves: 129S/Sv * CD-1	MGI:4819611
cn5	Smarca4^tm1Tich/Smarca4^+ Tg(Lck-cre)1Cwi/0	involves: 129	MGI:3830516
cx6	Smarca4^mos6/Smarca4^+ Sox10^tm1Weg/Sox10^+	involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6J	MGI:6241342
cx7	Smarca2^tm1Mya/Smarca2^tm1Mya Smarca4^tm1.1Pcn/Smarca4^+	involves: 129S2/SvPas * C57BL/6 * DBA/2	MGI:5009695
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:3830515

ht1

• Allelic Composition: Smarca4^tm1Tich/Smarca4⁺
• Genetic Background: involves: 129

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

immune system

immune system phenotype ( J:144072 )

N • despite reduced levels of CD8 expression, mice exhibit normal numbers of cells in the DN4 compartment

Genotype
MGI:5009693

ht2

• Allelic Composition: Smarca4^tm1.1Pcn/Smarca4⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

cardiovascular system

patent ductus arteriosus ( J:172661 )

• in 2 of 19 mice

ventricular septal defect ( J:172661 )

• in 2 of 19 mice

homeostasis/metabolism

cyanosis ( J:172661 )

• in 2 of 19 mice

cellular

patent ductus arteriosus ( J:172661 )

• in 2 of 19 mice

Genotype
MGI:5763438

ht3

• 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

ht4

• 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:3830516

cn5

• Allelic Composition: Smarca4^tm1Tich/Smarca4⁺; Tg(Lck-cre)1Cwi/0
• Genetic Background: involves: 129

immune system

decreased thymocyte number ( J:144072 )

• total thymocyte numbers are slightly reduced compared to in wild-type mice

decreased double-negative T cell number ( J:144072 )

• DN4 cells are completely missing

decreased double-positive T cell number ( J:144072 )

decreased single-positive T cell number ( J:144072 )

• immature single positive cells are lost

hematopoietic system

decreased thymocyte number ( J:144072 )

• total thymocyte numbers are slightly reduced compared to in wild-type mice

decreased double-negative T cell number ( J:144072 )

• DN4 cells are completely missing

decreased double-positive T cell number ( J:144072 )

decreased single-positive T cell number ( J:144072 )

• immature single positive cells are lost

endocrine/exocrine glands

decreased thymocyte number ( J:144072 )

• total thymocyte numbers are slightly reduced compared to in wild-type mice

Genotype
MGI:6241342

cx6

• Allelic Composition: Smarca4^mos6/Smarca4⁺; Sox10^tm1Weg/Sox10⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6J

pigmentation

belly spot ( J:241206 )

• adult double heterozygous mice exhibit more severe ventral white spotting than typically observed in single Sox10^tm1Weg heterozygotes

head spot ( J:241206 )

• adult double heterozygous mice exhibit a head spot

integument

belly spot ( J:241206 )

• adult double heterozygous mice exhibit more severe ventral white spotting than typically observed in single Sox10^tm1Weg heterozygotes

head spot ( J:241206 )

• adult double heterozygous mice exhibit a head spot

embryo

abnormal melanoblast morphology ( J:241206 )

• at E13.5, double heterozygous mice show a significant reduction of cranial melanoblast numbers relative to single Sox10^tm1Weg heterozygotes

nervous system

abnormal melanoblast morphology ( J:241206 )

• at E13.5, double heterozygous mice show a significant reduction of cranial melanoblast numbers relative to single Sox10^tm1Weg heterozygotes

Genotype
MGI:5009695

cx7

• Allelic Composition: Smarca2^tm1Mya/Smarca2^tm1Mya; Smarca4^tm1.1Pcn/Smarca4⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

digestive/alimentary system

digestive/alimentary phenotype ( J:172661 )

N • mice exhibit normal intestines and colonic ring contractility

muscle

abnormal muscle physiology ( J:172661 )

• in neonates, intestinal smooth muscle cell proliferation is increased compared to in wild-type mice

• however, colonic ring contractility is normal

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