All Phenotypes Sap130<em1Clo> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Sap130^em1Clo
endonuclease-mediated mutation 1, Cecilia Lo
MGI:5906303

Summary

1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Pcdha9^em1Clo/Pcdha9^em1Clo Sap130^em1Clo/Sap130^em1Clo	C57BL/6J-Sap130^em1Clo Pcdha9^em1Clo/MurrJ	MGI:5907019

Allelic Composition	Pcdha9^em1Clo/Pcdha9^em1Clo Sap130^em1Clo/Sap130^em1Clo
Genetic Background	C57BL/6J-Sap130^em1Clo Pcdha9^em1Clo/MurrJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pcdha9^em1Clo mutation (0 available); any Pcdha9 mutation (45 available)
Sap130^em1Clo mutation (0 available); any Sap130 mutation (50 available)

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

cardiovascular system

aorta hypoplasia ( J:242757 )

double outlet right ventricle ( J:242757 )

• aortic and pulmonary blood flow originating from the right ventricle indicate double outlet right ventricle type of hypoplastic left heart syndrome

mitral valve hypoplasia ( J:242757 )

• hypoplastic mitral valve

decreased heart left ventricle size ( J:242757 )

• small left ventricle with a small flow stream from the ascending aorta

decreased cardiac output ( J:242757 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
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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