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Col1a1tm1Bst
Targeted Allele Detail
Summary
Symbol: Col1a1tm1Bst
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: Col1a1tm1Bst 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 detailsGene 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  160 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory