| Primary Identifier | MGI:1860700 | Allele Type | Chemically induced (ENU) |
| Gene | Col3a1 | Inheritance Mode | Semidominant |
| Strain of Origin | 101/H | Is Recombinase | false |
| Is Wild Type | false |
| description | This mutation was found among offspring of a 101/H male treated with 200 mg/kg ethylnitrosourea (ENU). Histological examination of the skin of these mice reveals accumulation of collagen and mononuclear cell infiltration in dermis and adipose tissue. An increased collagen content is found biochemically, and steady-state levels of Col1a1 mRNA. (J:31216). |
| molecularNote | RNA sequencing and genome capture sequencing identified a gain-of function missense mutation consisting of a T-to-A transversion causing a cysteine to serine amino acid change (C33S) in the procollagen III amino terminal propeptide segment (PIIINP) of Col3a1. Western blot analysis indicates an increase in protein in the skin of heterozygotes. |
