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Phenotypes Associated with This Genotype
Genotype
MGI:5906296
Allelic
Composition		 Sap130b2b635.2Clo/Sap130b2b635.2Clo
Genetic
Background		 C57BL/6J-Sap130b2b635.2Clo
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sap130b2b635.2Clo 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

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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Send questions and comments to User Support. 		last database update
09/30/2025
MGI 6.24 		The Jackson Laboratory