| Primary Identifier | MGI:5313524 | Allele Type | Chemically induced (ENU) |
| Gene | Lox | Strain of Origin | C57BL/6J |
| Is Recombinase | false | Is Wild Type | false |
| Project Collection | B2B/CvDC |
| description | This mutation was derived from the parent line b2b370Clo. Summative Diagnosis: Cardiovascular defects: Supravalvular aortic stenosis (narrowed ascending aorta), Thickened great artery walls, Biventricular hypertrophy, and Pulmonary artery branch stenosis. Non-cardiac defects: diaphragmatic hernia Fyler Codes The Fyler code developed by The Boston Children's Heart Foundation in Boston Children's Hospital provides a hierarchical clinical diagnosis of congenital cardiovascular defects and other disorders. These codes are used to delineate pathology in the mutant mouse models that parallel human disease and can be cross referenced to the International Pediatric and Congenital Cardiac Code (IPCCC) (http://www.ipccc.net/).
molecularNote
|
This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b370Clo. The molecular lesion for this subline is a G to T substitution at coding nucleotide 854 in exon 3 of the cDNA (c.854G>T, NM_010728). This changes the cysteine residue to phenylalanine at position 285 of the encoded protein (p.C285F). |
|
