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Allele : Col1a1<tm1Bst> collagen, type I, alpha 1; targeted mutation 1, Paul Bornstein

Primary Identifier  MGI:2179405 Allele Type  Targeted
Attribute String  Hypomorph Gene  Col1a1
Transmission  Germline Strain of Origin  129P2/OlaHsd
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Single point mutation,
  • Intragenic deletion
  • synonyms:
  • COl-Intdelta,
  • COl-Intdelta
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

5 Publication categories