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Targeted Allele Detail
Symbol: Col1a1tm1.1Jcm
Name: collagen, type I, alpha 1; targeted mutation 1.1, Joan C Marini
MGI ID: MGI:2158863
Synonyms: BrtlIV
Gene: Col1a1  Location: Chr11:94827050-94843868 bp, + strand  Genetic Position: Chr11, 59.01 cM, cytoband D
Alliance: Col1a1tm1.1Jcm page
Skeletal abnormalities and small size of Col1a1tm1.1Jcm/Col1a1+ mice

Show the 3 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 detailsThis allele is a derivative of Col1a1tm1Jcm in which the loxP-flanked stop-neomycin selection cassette was removed by mating mice carrying Col1a1tm1Jcm to mice expressing Cre recombinase under the control of an EIIa promoter. F2 mice of this cross were screened for deletion of the cassette sequences. RT-PCR analysis and northern blots confirmed the expression of the mutant allele. Western blot analysis confirmed that the mutant protein was expressed in skin of homozygous mice. (J:59168)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 10 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:  161 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:  13 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
MGI 6.13
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