| Primary Identifier | MGI:5648205 | Allele Type | Chemically induced (ENU) |
| Gene | Tbc1d32 | Strain of Origin | C57BL/6J |
| Is Recombinase | false | Is Wild Type | false |
| Project Collection | B2B/CvDC |
| description | Summative Diagnosis: Cardiovascular phenotypes: Dysplastic semilunar valves, persistent truncus arteriosus (PTA), transposition of the great arteries (TGA) Noncardiovascular phenotype: short snout, exencephaly, preaxial digit duplication, renal anomalies |
| molecularNote | This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b3260Clo. The molecular lesion is a G to A substitution at nucleotide +1 after coding nucleotide 3100 (c.3100+1G>A, NM_001033385) in intron 27. This changes splice donor site G-GT to G-AT (which is assumed to be inactive). |
