Col1a1^tm2Jcm
Targeted Allele Detail

Summary

• Symbol: Col1a1^tm2Jcm
• Name: collagen, type I, alpha 1; targeted mutation 2, Joan C Marini
• MGI ID: MGI:7548868
• Synonyms: Col1a1^P986A
• Gene: Col1a1 Location: Chr11:94827050-94843868 bp, + strand Genetic Position: Chr11, 59.01 cM, cytoband D
• Alliance: Col1a1^tm2Jcm page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:298033
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Conditional ready)
• Mutations: Insertion, Single point mutation
• Mutation details: A loxP site and a mini-cDNA representing exons 47-51 through to the poly(A) signal sequence, followed by an FRT site flanked neomycin resistance gene cassette and a second loxP site, were inserted into intron 46. Proline codon 1153 (CCC) in the endogenous exon 47 was changed to alanine (GCC) (p.P1153A). Only after Cre-mediated removal of the inserted wildtype sequence will this allele express the mutated version. (J:298033)

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: 166 strains or lines available

References

• Original: J:298033 Cabral WA, et al., Substitution of murine type I collagen A1 3-hydroxylation site alters matrix structure but does not recapitulate osteogenesis imperfecta bone dysplasia. Matrix Biol. 2020 Aug;90:20-39
• All: 1 reference(s)