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Chemically induced Allele Detail
Symbol: Sap130b2b635.2Clo
Name: Sin3A associated protein; Bench to Bassinet Program (B2B/CVDC), mutation 635.2 Cecilia Lo
MGI ID: MGI:5906284
Gene: Sap130  Location: Chr18:31767424-31856114 bp, + strand  Genetic Position: Chr18, 17.81 cM, cytoband B2
Strain of Origin:  C57BL/6J
Project Collection: B2B/CvDC
Allele Type:    Chemically induced (ENU) (Hypomorph, Modified isoform(s))
Mutation:    Single point mutation
Mutation detailsThis ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is one of five changes identified in the mutant line b2b635Clo, also called Ohia. The molecular lesion in this gene is T to C substitution at nucleotide +2 after coding nucleotide 1213 (c.1213+2T>C) in intron 10. This changes splice donor site G-GT to G-GC (which is assumed to be less efficient). This is predicted to cause an in-frame deletion of exon 10 in splice form a, a 76 bp insertion in intron 10 in splice form b, and a deletion of exons 9 and 10 with frameshift and premature termination in splice form c. The mutant phenotype in line 635 segregates with distinct mutations in two genes, Sap130 and Pcdha9. See also Pcdha9b2b635.1Clo. (J:242757)
Inheritance:    Recessive
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 3 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Sap130 Mutation:  41 strains or lines available
Original:  J:242757 Liu X, et al., The complex genetics of hypoplastic left heart syndrome. Nat Genet. 2017 Jul;49(7):1152-1159
All:  2 reference(s)

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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last database update
MGI 6.20
The Jackson Laboratory