All Phenotypes Sap130<b2b635.2Clo> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Sap130^b2b635.2Clo
Bench to Bassinet Program (B2B/CVDC), mutation 635.2 Cecilia Lo
MGI:5906284

Summary

4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sap130^b2b635.2Clo/Sap130^b2b635.2Clo	C57BL/6J-Sap130^b2b635.2Clo	MGI:5906296
hm2	Sap130^b2b635.2Clo/Sap130^b2b635.2Clo	C57BL/6J-Sap130^b2b635.2Clo Pcdha9^b2b635.1Clo	MGI:5906294
ht3	Sap130^b2b635.2Clo/Sap130^{tm1a(KOMP)Mbp}	involves: C57BL/6J * C57BL/6N	MGI:5906599
cx4	Pcdha9^b2b635.1Clo/Pcdha9^b2b635.1Clo Sap130^b2b635.2Clo/Sap130⁺	C57BL/6J-Sap130^b2b635.2Clo Pcdha9^b2b635.1Clo	MGI:5906293

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

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 13 of 59 mice assessed

heart left ventricle hypoplasia ( J:242757 )

• in 6 of 59 mice assessed

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital heart disease		DOID:1682		J:242757

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

Allelic Composition	Sap130^b2b635.2Clo/Sap130^{tm1a(KOMP)Mbp}
Genetic Background	involves: C57BL/6J * C57BL/6N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sap130^b2b635.2Clo mutation (0 available); any Sap130 mutation (50 available)
Sap130^{tm1a(KOMP)Mbp} mutation (1 available); any Sap130 mutation (50 available)

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

mortality/aging

embryonic lethality at implantation, complete penetrance ( J:242757 )

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pcdha9^b2b635.1Clo mutation (0 available); any Pcdha9 mutation (45 available)
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 3 of 12 mice assessed

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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