Primary Identifier | MGI:1856689 | Allele Type | Chemically induced (ENU) |
Gene | Col4a1 | Inheritance Mode | Semidominant |
Strain of Origin | Not Specified | Is Recombinase | false |
Is Wild Type | false |
description | The bruised mutation was found among offspring of a male treated with ethylnitrosourea (J:13980). |
molecularNote | ENU mutagenesis resulted in an G>T point mutation in exon 26 resulting in the substitution of glycine with tryptophan at position 627 of the encoded peptide (p.G627W). This is predicted to cause severe detrimental effects on collagen triple helix formation and stability. |