| Primary Identifier | MGI:5648214 | Allele Type | Chemically induced (ENU) |
| Gene | Fras1 | Strain of Origin | C57BL/6J |
| Is Recombinase | false | Is Wild Type | false |
| Project Collection | B2B/CvDC |
| description | Summative Diagnosis: Cardiovascular phenotypes: membranous ventricular septal defect Noncardiovascular phenotype: Abnormal eyes, micrognathia, kidney agenesis, hindlimb digit anomalies Phenotypic Similarity to Human Syndrome: Fraser syndrome |
| molecularNote | This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a C to T substitution at coding nucleotide 1228 in exon 12 of the cDNA (c.1228C>T, NM_175473). This changes the glutamine residue to a translation stop at position 410 of the encoded protein (p.Q410*). |
