Col6a1^tm1Sngi
Targeted Allele Detail

Summary

• Symbol: Col6a1^tm1Sngi
• Name: collagen, type VI, alpha 1; targeted mutation 1, Satoru Noguchi
• MGI ID: MGI:6401814
• Synonyms: Col6a1^GT
• Gene: Col6a1 Location: Chr10:76544626-76561869 bp, - strand Genetic Position: Chr10, 39.71 cM, cytoband B5-C1
• Alliance: Col6a1^tm1Sngi page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:278926
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Conditional ready, Hypomorph)
• Mutations: Insertion, Single point mutation
• Mutation details: An A to G change at position 847 resulting in a glycine to arginine substitution at amino acid 283 was inserted in exon 9 and a FRT and loxP-flanked neomycin selection cassette was inserted in intron 9. Mice show a reduction of mRNA levels and only aberrant spliced products from exon 9 to the neo cassette, suggesting a frame-shift after exon 9. (J:278926)

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 Col6a1 Mutation: 63 strains or lines available

References

• Original: J:278926 Noguchi S, et al., Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy. EBioMedicine. 2017 Feb;15:193-202
• All: 2 reference(s)