Col1a1^tm1Jcm
Targeted Allele Detail

Summary

• Symbol: Col1a1^tm1Jcm
• Name: collagen, type I, alpha 1; targeted mutation 1, Joan C Marini
• MGI ID: MGI:2154695
• Synonyms: BrtlII, Col1a1^G349C
• Gene: Col1a1 Location: Chr11:94827050-94843868 bp, + strand Genetic Position: Chr11, 59.01 cM, cytoband D
• Alliance: Col1a1^tm1Jcm page

Skeletal abnormalities in Col1a1^tm1.1Jcm/Col1a1⁺ and Col1a1^tm1Jcm/Col1a1⁺ mice

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:59168
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129X1/SvJ

Mutation description

• Allele Type: Targeted
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: 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. (J:59168)

Disease models

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:59168 Forlino A, et al., Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV mice. J Biol Chem. 1999 Dec 31;274(53):37923-31
• All: 1 reference(s)