Smarcb1 Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Smarcb1
SWI/SNF related BAF chromatin remodeling complex subunit B1
MGI:1328366

65 phenotypes from 9 alleles in 12 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Smarcb1^em1Koke/Smarcb1^em1Koke C57BL/6-Smarcb1^em1Koke	normal cellular phenotype	J:337790
	cerebral aqueductal stenosis	J:337790
	dilated lateral ventricle	J:337790
	normal embryo phenotype	J:337790
	enlarged brain ventricles	J:337790
	normal neoplasm	J:337790
	normal nervous system phenotype	J:337790
	obstructive hydrocephaly	J:337790
	slow postnatal weight gain	J:337790
	thin cerebral cortex	J:337790
Smarcb1^{Gt(OST32815)Lex}/Smarcb1⁺ either: (involves: 129 * 129S5/SvEvBrd) or (involves: 129S5/SvEvBrd * C57BL/6)	increased tumor incidence	J:69009, J:87955
Smarcb1^{Gt(OST32815)Lex}/Smarcb1^{Gt(OST32815)Lex} either: (involves: 129 * 129S5/SvEvBrd) or (involves: 129S5/SvEvBrd * C57BL/6)	absent inner cell mass proliferation	J:69009
	absent trophectoderm cell proliferation	J:69009
	embryonic lethality at implantation, complete penetrance	J:69009
	failure of blastocyst to hatch from the zona pellucida	J:69009
	failure of embryo implantation	J:69009
Smarcb1^{tm1b(EUCOMM)Hmgu}/Smarcb1⁺ C57BL/6N-Smarcb1^{tm1b(EUCOMM)Hmgu}/Bay	abnormal coat appearance	J:211773
	abnormal skin coloration	J:211773
	decreased prepulse inhibition	J:211773
Smarcb1^{tm1b(EUCOMM)Hmgu}/Smarcb1^{tm1b(EUCOMM)Hmgu} C57BL/6N-Smarcb1^{tm1b(EUCOMM)Hmgu}/Bay	embryonic lethality prior to organogenesis	J:211773
	preweaning lethality, complete penetrance	J:211773
Smarcb1^tm1Gvk/Smarcb1⁺ involves: 129/Sv * C57BL/6J * SJL/J	increased blastoma incidence	J:101185
	increased brain tumor incidence	J:101185
	increased facial tumor incidence	J:101185
	increased tumor incidence	J:101185
Smarcb1^tm1Gvk/Smarcb1^tm1Gvk involves: 129/Sv * C57BL/6J * SJL/J	prenatal lethality, complete penetrance	J:101185
Smarcb1^tm1Mya/Smarcb1⁺ involves: 129S2/SvPas * C57BL/6	increased sarcoma incidence	J:68501
Smarcb1^tm1Mya/Smarcb1^tm1Mya involves: 129S2/SvPas * C57BL/6	abnormal inner cell mass apoptosis	J:68501
	embryonic lethality between implantation and somite formation, complete penetrance	J:68501
	failure of blastocyst to hatch from the zona pellucida	J:68501
	failure of embryo implantation	J:68501
	increased trophectoderm apoptosis	J:68501
Smarcb1^tm1Mya/Smarcb1^tm2Mya Tg(Alb1-cre)7Gsc/0 involves: 129S2/SvPas * FVB/N	abnormal hepatocyte morphology	J:103919
	decreased glycogen catabolism rate	J:103919
	decreased liver glycogen level	J:103919
	dissociated hepatocytes	J:103919
	hypoglycemia	J:103919
	impaired gluconeogenesis	J:103919
	increased hepatocyte proliferation	J:103919
	neonatal lethality, complete penetrance	J:103919
Smarcb1^tm1Sho/Smarcb1⁺ involves: 129S6/SvEvTac * C57BL/6	increased tumor incidence	J:66417
Smarcb1^tm1Sho/Smarcb1⁺ involves: 129S6/SvEvTac * C57BL/6J * DBA/2J	decreased tumor-free survival time	J:120820
	increased malignant tumor incidence	J:120820
Smarcb1^tm1Sho/Smarcb1^tm1Sho involves: 129S6/SvEvTac * C57BL/6	embryonic lethality between implantation and somite formation, complete penetrance	J:66417
Smarcb1^tm1Sho/Smarcb1^tm2Sho Tg(Mx1-cre)1Cgn/? involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6 * CBA	abnormal bone marrow cell morphology/development	J:80224
	bruising	J:80224
	intestinal hemorrhage	J:80224
	pancytopenia	J:80224
	premature death	J:80224
Smarcb1^tm1Sho/Smarcb1^tm3Sho Tg(Gata1-cre)1Sho/? involves: 129S1/Sv * 129S6/SvEvTac * CD-1	embryonic lethality	J:80224
Smarcb1^tm1Sho/Smarcb1^tm3Sho Tg(Mx1-cre)1Cgn/? involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6 * CBA	abnormal blood cell morphology/development	J:80224
	abnormal liver morphology	J:80224
	abnormal lymph node morphology	J:80224
	abnormal spleen morphology	J:80224
	enlarged liver	J:80224
	enlarged lymph nodes	J:80224
	enlarged spleen	J:80224
	increased apoptosis	J:80224
	increased eosinophil cell number	J:80224
	increased lymphoma incidence	J:80224
	increased rhabdomyoma incidence	J:80224
	increased T cell derived lymphoma incidence	J:80224
	increased tumor incidence	J:80224
Smarcb1^tm2Sho/Smarcb1⁺ Tg(Nes-cre)1Kln/0 involves: 129S1/Sv * C57BL/6 * SJL	decreased litter size	J:226786
	prenatal lethality, incomplete penetrance	J:226786
Smarcb1^tm2Sho/Smarcb1^tm2Sho Tg(GFAP-cre)#Gtm/0 involves: 129S1/Sv * C57BL/6 * CBA	abnormal brain white matter morphology	J:226786
	abnormal cerebellar granule cell migration	J:226786
	abnormal cerebellar Purkinje cell layer	J:226786
	abnormal corpus callosum morphology	J:226786
	axon degeneration	J:226786
	demyelination	J:226786
	normal neoplasm	J:226786
	thin cerebral cortex	J:226786
Smarcb1^tm2Sho/Smarcb1^tm2Sho Tg(Nes-cre)1Kln/0 involves: 129S1/Sv * C57BL/6 * SJL	prenatal lethality, complete penetrance	J:226786

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24