| Primary Identifier | MGI:5906284 | Allele Type | Chemically induced (ENU) |
| Attribute String | Hypomorph, Modified isoform(s) | Gene | Sap130 |
| Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
| Is Recombinase | false | Is Wild Type | false |
| Project Collection | B2B/CvDC |
| molecularNote | 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 Pcdha9b2b635.1Clo. |
