Col2a1^tm1Dshh
Targeted Allele Detail

Summary

• Symbol: Col2a1^tm1Dshh
• Name: collagen, type II, alpha 1; targeted mutation 1, Dongsheng Huang
• MGI ID: MGI:5620959
• Synonyms: Col2a1^Gly1170Ser
• Gene: Col2a1 Location: Chr15:97873483-97902525 bp, - strand Genetic Position: Chr15, 53.97 cM
• Alliance: Col2a1^tm1Dshh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:212712
• Parent Cell Line: PRX-129S6 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 50 was replaced with one in which a G to A point mutation results in the amino acid substitution of serine for glycine at position 1170 (G1170S). A neomycin resistance cassette was inserted upstream of the modified exon. (J:212712)

Expression

In Structures Affected by this Mutation:

17 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 Col2a1 Mutation: 69 strains or lines available

References

• Original: J:212712 Liang G, et al., Endoplasmic reticulum stress-unfolding protein response-apoptosis cascade causes chondrodysplasia in a col2a1 p.Gly1170Ser mutated mouse model. PLoS One. 2014;9(1):e86894
• All: 1 reference(s)