These Col1a1 targeted mutant mice develop fibrosis in the dermis characterized by a thickening and roughening of the skin.
Rudolf Jaenisch, Whitehead Institute, Massachusetts Institute of Technology
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
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Targeted | Col1a1 | collagen, type I, alpha 1 |
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.
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 Name | targeted mutation 1, Rudolf Jaenisch |
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Allele Type | Targeted |
Allele Synonym(s) | ColR; Col1a1r; Col1a1tmJae; mutation IV; rr |
Gene Symbol and Name | Col1a1, collagen, type I, alpha 1 |
Gene Synonym(s) | |
Promoter | Col1a1, collagen, type I, alpha 1, mouse, laboratory |
Strain of Origin | 129S4/SvJae |
Chromosome | 11 |
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. |
Mutations Made By | Rudolf Jaenisch, Whitehead Institute, Massachusetts Institute of Technology |
When maintaining a live colony, these mice can be bred as homozygotes. These mice have slightly reduced litter sizes and significantly fewer litters than normal wildtype mice.
When using the B6;129S4-Col1a1tm1Jae/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #002495 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous or Wildtype for Col1a1<tm1Jae> |
Frozen Mouse Embryo | B6;129S4-Col1a1<tm1Jae>/J Frozen Embryos | $2595.00 |
Frozen Mouse Embryo | B6;129S4-Col1a1<tm1Jae>/J Frozen Embryos | $2595.00 |
Frozen Mouse Embryo | B6;129S4-Col1a1<tm1Jae>/J Frozen Embryos | $3373.50 |
Frozen Mouse Embryo | B6;129S4-Col1a1<tm1Jae>/J Frozen Embryos | $3373.50 |
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