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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Smarca4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
MGI:88192
87 phenotypes from 10 alleles in 16 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Nfatc1tm1(cre)Bz/Nfatc1+
Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ 		abnormal aortic valve morphology J:226941
abnormal heart ventricle morphology J:226941
bicuspid aortic valve J:226941
cardiomyopathy J:226941
enlarged heart J:226941
normal mortality/aging J:226941
thick aortic valve cusps J:226941
thick pulmonary valve J:226941
Nfatc1tm1.1(cre)Bz/Nfatc1+
Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ 		abnormal aortic sinus morphology J:226941
abnormal aortic valve cusp morphology J:226941
abnormal aortic valve morphology J:226941
abnormal cardiac outflow tract development J:226941
abnormal coronary artery morphology J:226941
abnormal coronary vein morphology J:226941
abnormal pulmonary valve cusp morphology J:226941
abnormal semilunar valve morphology J:226941
bicuspid aortic valve J:226941
enlarged heart J:226941
lethality throughout fetal growth and development, incomplete penetrance J:226941
perimembraneous ventricular septal defect J:226941
perinatal lethality J:226941
thick aortic valve J:226941
thick heart valve cusps J:226941
thick myocardium J:226941
thick pulmonary valve J:226941
Smarca4b2b508.1Clo/Smarca4b2b508.1Clo
C57BL/6J-Smarca4b2b508.1Clo 		anophthalmia J:175213
atrioventricular septal defect J:175213
complete atrioventricular septal defect J:175213
double outlet right ventricle J:175213
microcephaly J:175213
micrognathia J:175213
ventricular septal defect J:175213
Smarca4b2b692Clo/Smarca4b2b692Clo
C57BL/6J-Smarca4b2b692Clo 		coronary-cameral fistula to heart right ventricle J:175213
double outlet right ventricle J:175213
muscular ventricular septal defect J:175213
overriding aortic valve J:175213
perimembraneous ventricular septal defect J:175213
Smarca4enu1/Smarca4tm1Mag
involves: 129S/Sv * C57BL/10 * CBA/Cbi 		abnormal blood cell morphology/development J:103896
abnormal erythrocyte morphology J:103896
abnormal liver morphology J:103896
embryonic lethality during organogenesis, complete penetrance J:103896
Smarca4mos6/Smarca4mos6
involves: BALB/cJ * C57BL/6J 		embryonic lethality, complete penetrance J:241206
Smarca4tm1.1Axvi/Smarca4tm1.1Axvi
involves: 129S6/SvEvTac 		no abnormal phenotype detected J:212226
Smarca4tm1.1Grc/Smarca4tm1.1Grc
involves: 129 * C57BL/6 		no abnormal phenotype detected J:101977
Smarca4tm1.1Pcn/Smarca4+
involves: 129S2/SvPas * C57BL/6 * DBA/2 		cyanosis J:172661
patent ductus arteriosus J:172661
ventricular septal defect J:172661
Smarca4tm1.2Pcn/Smarca4tm1.1Pcn
Tg(Myh11-cre,-EGFP)2Mik/0
involves: 129S2/SvPas * C57BL/6 * DBA/2 		abnormal intestinal smooth muscle morphology J:172661
abnormal jejunum morphology J:172661
abnormal muscle physiology J:172661
abnormal pulmonary circulation J:172661
abnormal small intestine morphology J:172661
congestive heart failure J:172661
cyanosis J:172661
decreased colon length J:172661
decreased small intestine length J:172661
dilated heart J:172661
enlarged cecum J:172661
enlarged ileum J:172661
impaired smooth muscle contractility J:172661
megacolon J:172661
patent ductus arteriosus J:172661
postnatal lethality, incomplete penetrance J:172661
primary atelectasis J:172661
pulmonary alveolar proteinosis J:172661
ventricular septal defect J:172661
Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
Tg(KRT14-cre)1Ipc/?
involves: 129S2/SvPas * C57BL/6 * SJL 		abnormal apical ectodermal ridge morphology J:101729
abnormal digit morphology J:101729
abnormal epidermis stratum corneum morphology J:101729
abnormal hindlimb morphology J:101729
abnormal hindlimb zeugopod morphology J:101729
abnormal skin morphology J:101729
dry skin J:101729
impaired skin barrier function J:101729
monodactyly J:101729
neonatal lethality, complete penetrance J:101729
shiny skin J:101729
Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
Tg(KRT14-cre/ERT2)1Ipc/?
involves: 129S2/SvPas 		abnormal digit morphology J:101729
abnormal epidermis stratum corneum morphology J:101729
abnormal hindlimb morphology J:101729
abnormal skin morphology J:101729
impaired skin barrier function J:101729
Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
Tg(Lck-cre)1Cwi/0
Not Specified 		abnormal T cell morphology J:144072
decreased double-negative T cell number J:144072
Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
Tg(Nfat1c-cre)1Bz/0
involves: 129S2/SvPas 		normal cardiovascular system phenotype J:226941
Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
Tg(Sox10-cre)1Wdr/0
involves: 129S2/SvPas * C57BL/6 * CBA 		abnormal melanoblast morphology J:241206
Smarca4tm1.2Pcn/Smarca4tm1.2Pcn
Tg(Tek-cre)1Ywa/0
involves: 129S2/SvPas * C57BL/6 * SJL 		abnormal atrioventricular cushion morphology J:226941
abnormal cardiac outflow tract development J:226941
Smarca4tm1.2Pcn/Smarca4tm1Mag
Tg(Lck-cre)1Cwi/?
involves: 129S/Sv * C57BL/6 * DBA/2 		abnormal T cell differentiation J:85191
absent CD8-positive, alpha-beta T cells J:85191
arrested T cell differentiation J:85191
decreased CD4-positive, alpha-beta T cell number J:85191
decreased double-negative T cell number J:85191
decreased double-positive T cell number J:85191
thymus hypoplasia J:85191
Smarca4tm1.2Pcn/Smarca4tm1Tich
Tg(Lck-cre)1Cwi/0
involves: 129 		abnormal T cell morphology J:144072
decreased double-negative T cell number J:144072
decreased thymocyte number J:144072
Smarca4tm1Mag/Smarca4+
involves: 129S/Sv * C57BL/6J * CD-1 		increased mammary adenocarcinoma incidence J:132091
increased osteosarcoma incidence J:132091
Smarca4tm1Mag/Smarca4+
involves: 129S/Sv * CD-1 		decreased survivor rate J:66861
exencephaly J:66861
increased tumor incidence J:66861
postnatal lethality, incomplete penetrance J:66861
Smarca4tm1Mag/Smarca4tm1.2Pcn
involves: 129S2/SvPas 		normal cellular phenotype J:66861
Smarca4tm1Mag/Smarca4tm1Mag
involves: 129S/Sv * CD-1 		embryonic lethality before implantation, complete penetrance J:66861
Smarca4tm1Tich/Smarca4+
involves: 129 		normal immune system phenotype J:144072
Smarca4tm1Tich/Smarca4+
Tg(Lck-cre)1Cwi/0
involves: 129 		decreased double-negative T cell number J:144072
decreased double-positive T cell number J:144072
decreased single-positive T cell number J:144072
decreased thymocyte number J:144072
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory