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Targeted Allele Detail
Symbol: Col1a1tm1Jcm
Name: collagen, type I, alpha 1; targeted mutation 1, Joan C Marini
MGI ID: MGI:2154695
Synonyms: BrtlII, Col1a1G349C
Gene: Col1a1  Location: Chr11:94936224-94953042 bp, + strand  Genetic Position: Chr11, 59.01 cM, cytoband D
Skeletal abnormalities in Col1a1tm1.1Jcm/Col1a1+ and Col1a1tm1Jcm/Col1a1+ mice

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

Germline Transmission:  Earliest citation of germline transmission: J:59168
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129X1/SvJ
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsFour 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 3 anatomical structures
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:  107 strains or lines available
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)

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