Col1a1^tm1Bst
Targeted Allele Detail

Summary

• Symbol: Col1a1^tm1Bst
• Name: collagen, type I, alpha 1; targeted mutation 1, Paul Bornstein
• MGI ID: MGI:2179405
• Synonyms: COl-Intdelta
• Gene: Col1a1 Location: Chr11:94827050-94843868 bp, + strand Genetic Position: Chr11, 59.01 cM, cytoband D
• Alliance: Col1a1^tm1Bst page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:47669
• Parent Cell Line: E14TG2a (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutations: Intragenic deletion, Single point mutation
• Mutation details: Gene targeting by double replacement introduced a 1283 bp deletion within intron 1 and a silent single base mutation in exon 7. RT-PCR studies of skin from heterozygous mice detected no change in expression from this allele compared to the wild-type allele. However, in lungs of young heterozygous mice this allele was expressed at about 75% of the level of the wild-type allele; and in lungs of adult mice, expression was reduced to about 50%. RNase protection assays detected a 2-3 fold decrease in mRNA in lungs of homozygous mutant mice. Expression studies determined that the mutated intron was spliced correctly. (J:47669)

Expression

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Col1a1 Mutation: 163 strains or lines available

References

• Original: J:47669 Hormuzdi SG, et al., A gene-targeting approach identifies a function for the first intron in expression of the alpha1(I) collagen gene. Mol Cell Biol. 1998 Jun;18(6):3368-75
• All: 3 reference(s)