| Primary Identifier | MGI:5648002 | Allele Type | Chemically induced (ENU) |
| Gene | Wrn | Strain of Origin | C57BL/6J |
| Is Recombinase | false | Is Wild Type | false |
| Project Collection | B2B/CvDC |
| description | Summative Diagnosis: Cardiovascular phenotypes: outflow anomaly comprising of bicuspic aortic or pulmonary valves. Noncardiovascular phenotype: cleft palate, hypoplastic thymus, enlarged adrenal gland |
| molecularNote | This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b3121Clo. The molecular lesion is a G to A substitution at coding nucleotide position 3502 in exon 28 of the cDNA (c.3502G>A, NM_001122822). This changes the glycine residue to serine at position 1168 of the encoded protein (p.G1168S). |
