Col1a1^M1Jrt
Chemically induced Allele Detail

Summary

• Symbol: Col1a1^M1Jrt
• Name: collagen, type I, alpha 1; mutation 1, Janet Rossant
• MGI ID: MGI:5620941
• Synonyms: Col1a1^Jrt
• Gene: Col1a1 Location: Chr11:94827050-94843868 bp, + strand Genetic Position: Chr11, 59.01 cM, cytoband D
• Alliance: Col1a1^M1Jrt page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis resulted in a T to C transition within the splice donor of Exon 9. Sequencing revealed that the mutation resulted in the skipping of Exon 9 predicting an 18 amino acid deletion in the main triple helical domain. (J:216423)
• Inheritance: Dominant

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	12 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Col1a1 Mutation: 163 strains or lines available

References

• Original: J:216423 Chen F, et al., First mouse model for combined osteogenesis imperfecta and Ehlers-Danlos syndrome. J Bone Miner Res. 2014 Jun;29(6):1412-23
• All: 5 reference(s)