Col3a1^m1Lsmi
Spontaneous Allele Detail

Summary

• Symbol: Col3a1^m1Lsmi
• Name: collagen, type III, alpha 1; mutation 1, Lee Smith
• MGI ID: MGI:5306912
• Synonyms: Col3a1^delta
• Gene: Col3a1 Location: Chr1:45350698-45388866 bp, + strand Genetic Position: Chr1, 23.67 cM
• Alliance: Col3a1^m1Lsmi page

Mutation origin

• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Spontaneous
• Mutation: Intergenic deletion
• The 185 kb deletion encompasses the first 38 exons. (J:180733)

Disease models

Expression

In Structures Affected by this Mutation:

4 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 Col3a1 Mutation: 85 strains or lines available

Notes

Isolated from ES cells targeted to produce Mro^tm1H.

References

• Original: J:180733 Smith LB, et al., Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers-Danlos syndrome. Cardiovasc Res. 2011 Apr 1;90(1):182-90
• All: 3 reference(s)