B6;129S4-Col1a1^tm1Jae/J

Stock number: 002495
Product name: Col1a1^r
Research areas: Cardiovascular Research, Dermatology Research, Developmental Biology Research, Reproductive Biology Research

Description

These Col1a1 targeted mutant mice develop fibrosis in the dermis characterized by a thickening and roughening of the skin.

Detailed description

Homozygous mice are viable and develop to young adulthood without obvious differences from wildtype mice. As the mice age they develop fibrosis in the dermis characterized by a thickening and roughening of the skin, which is similar to that seen in human scleroderma. Homozygous females develop postpartum abnormalities of the uterus caused by a failure of collagen resorption. They have slightly reduced litter sizes and significantly fewer litters than normal wildtype mice. A secondary collagenase cleavage site was found in the mutant protein that could be cleaved by rat collagenase but not by human collagenase.

Development

This strain was developed in the lab of Dr. Rudolf Jaenisch at the Whitehead Institute for Biomedical Research at the Massachusetts Institute of Technology. The 129S4/SvJae-derived J1 ES cell line was used. The wildtype Cola1 was replaced with a mutated form which lacks a collagenase cleavage site between Gly₇₇₅ and Ile₇₇₆.

Allele

Symbol: Col1a1^tm1Jae
Name: targeted mutation 1, Rudolf Jaenisch
MGI accession ID: MGI:1857154
Generation method: Targeted
Synonyms: Col^R; Col1a1^r; Col1a1^tmJae; mutation IV; rr
Marker symbol: Col1a1
Marker name: collagen, type I, alpha 1
Marker synonyms: CAFYD; Col1a-1; Cola1; Cola-1; COLIA1; EDSARTH1; EDSC; Mov-13; OI1; OI2; OI3; OI4
Chromosome: 11
Strain of origin: 129S4/SvJae
Molecular note: Several point mutations were introduced into the sequences encoding the collagenase cleavage domain by a "hit and run" targeting strategy. These mutations resulted in substitutions of proline for glutamine-774 and alanine-777 and methionine for isoleucine-776 in the encoded protein.