Col3a1^Tsk2
Chemically induced Allele Detail

Summary

• Symbol: Col3a1^Tsk2
• Name: collagen, type III, alpha 1; tight skin 2
• MGI ID: MGI:1860700
• Gene: Col3a1 Location: Chr1:45350698-45388866 bp, + strand Genetic Position: Chr1, 23.67 cM
• Alliance: Col3a1^Tsk2 page

Mutation origin

• Strain of Origin: 101/H

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: 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. (J:215227)
• Inheritance: Semidominant

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Col3a1 Mutation: 85 strains or lines available

Notes

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).

References

• Original: J:14073 Peters J, et al., Tight skin-2 (Tsk-2). Mouse News Lett. 1986;74:91-2
• All: 8 reference(s)