Phenotypes for Sap130 MGI:5906294 MGI Mouse

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Phenotypes Associated with This Genotype

Allelic Composition	Sap130^b2b635.2Clo/Sap130^b2b635.2Clo
Genetic Background	C57BL/6J-Sap130^b2b635.2Clo Pcdha9^b2b635.1Clo

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sap130^b2b635.2Clo mutation (0 available); any Sap130 mutation (50 available)

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

cardiovascular system

aorta stenosis ( J:242757 )

• in 14 of 88 animals assessed

mitral valve hypoplasia ( J:242757 )

heart left ventricle hypoplasia ( J:242757 )

• in 6 of 88 animals assessed

Mouse Models of Human Disease	DO ID	OMIM ID(s)	Ref(s)
congenital heart disease	DOID:1682		J:242757
hypoplastic left heart syndrome	DOID:9955	OMIM:241550 OMIM:614435	J:242757

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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