Sap130^b2b635.2Clo
Chemically induced Allele Detail

Summary

• Symbol: Sap130^b2b635.2Clo
• Name: Sin3A associated protein; Bench to Bassinet Program (B2B/CVDC), mutation 635.2 Cecilia Lo
• MGI ID: MGI:5906284
• Gene: Sap130 Location: Chr18:31767436-31856121 bp, + strand Genetic Position: Chr18, 17.81 cM, cytoband B2
• Alliance: Sap130^b2b635.2Clo page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: B2B/CvDC

Mutation description

• Allele Type: Chemically induced (ENU) (Hypomorph, Modified isoform(s))
• Mutation: Single point mutation
• Mutation details: This 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 Pcdha9^b2b635.1Clo. (J:242757)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

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: 50 strains or lines available

References

• 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)