Col1a1^tm1.1Jcm
Targeted Allele Detail

Summary

• Symbol: Col1a1^tm1.1Jcm
• 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: Col1a1^tm1.1Jcm page

Skeletal abnormalities and small size of Col1a1^tm1.1Jcm/Col1a1⁺ mice

Show the 3 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: This allele is a derivative of Col1a1^tm1Jcm in which the loxP-flanked stop-neomycin selection cassette was removed by mating mice carrying Col1a1^tm1Jcm 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)

Disease models

Expression

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: 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: 13 reference(s)