|  Help  |  About  |  Contact Us

Allele : Col1a1<tm1Jcm> collagen, type I, alpha 1; targeted mutation 1, Joan C Marini

Primary Identifier  MGI:2154695 Allele Type  Targeted
Gene  Col1a1 Transmission  Germline
Strain of Origin  129X1/SvJ Is Recombinase  false
Is Wild Type  false
molecularNote  Four point mutations were introduced: A G-to-T transverion at nucleotide 1546, prediced to alter amino acid 349 from glycine to cysteine; A C-to-T transition at nucleotide 1551 to create a GUC ribozyme cleaveage site and C-to-A and C-to-G mutations in codon 356 to alter the corresponding leucine to a methionine. A loxP-flanked neomycin selection cassette containing stop codons in all three reading frames was also inserted into intron 22. RT-PCR analysis on RNA from E18.5 homozygous embryos demonstrated that aberrant transcripts are produced from this allele that incorporate sequences from the stop-neomycin cassette, resulting in the expression of a truncated protein, shown by western blot on cultured fibroblasts derived from homozygous mice.
  • mutations:
  • Insertion,
  • Nucleotide substitutions
  • synonyms:
  • Col1a1<G349C>,
  • Col1a1<G349C>,
  • BrtlII,
  • BrtlII
Quick Links:
 
Quick Links:
 

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories