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Chemically induced Allele Detail
Symbol: Col3a1Tsk2
Name: collagen, type III, alpha 1; tight skin 2
MGI ID: MGI:1860700
Gene: Col3a1  Location: Chr1:45311538-45349706 bp, + strand  Genetic Position: Chr1, 23.67 cM
Strain of Origin:  101/H
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsRNA 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
View phenotypes for all genotypes (concatenated display).
Disease models
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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:  5 strains or lines available
This mutation was found among offspring of a 101/H male treated with 200 mg/kg ethylnitrosourea (ENU), and shown to be a second tight skin mutation (see Fbn1Tsk). Homozygotes probably die prenatally (J:14073). Heterozygotes can be recognized at 1 to 2 weeks of age by tightness of the skin over the shoulders when picked up. No other abnormality was detected and the mice are fully viable and fertile. 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. These abnormalities resemble those of human patients with systemic sclerosis (J:31216).

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

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 5.21
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