Col3a1^tm1.1Jeu
Targeted Allele Detail

Summary

• Symbol: Col3a1^tm1.1Jeu
• Name: collagen, type III, alpha 1; targeted mutation 1.1, Xavier Jeunemaitre
• MGI ID: MGI:7367589
• Synonyms: Col3a1^G182R
• Gene: Col3a1 Location: Chr1:45350698-45388866 bp, + strand Genetic Position: Chr1, 23.67 cM
• Alliance: Col3a1^tm1.1Jeu page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:330320
• Parent Cell Line: CK35 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: An FRT-flanked pgk-neo cassette was inserted upstream of exon 6 and a copy of exon 6 with a G to A mutation at position 547 resulting in an G to R substitution at amino acid 182 was inserted via homologous recombination. Flp mediated recombination removed the pgk-neo cassette. The mutation in exon 6 is homologous to the most common type of COL3A1 disease-causing genetic variant in human Vascular Ehlers-Danlos syndrome patients. (J:330320)

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: 86 strains or lines available

References

• Original: J:330320 Legrand A, et al., Comparative therapeutic strategies for preventing aortic rupture in a mouse model of vascular Ehlers-Danlos syndrome. PLoS Genet. 2022 Mar;18(3):e1010059
• All: 1 reference(s)