Fkrp^tm1.1Pg
Targeted Allele Detail

Summary

• Symbol: Fkrp^tm1.1Pg
• Name: fukutin related protein; targeted mutation 1.1, PolyGene AG
• MGI ID: MGI:6404009
• Synonyms: FKRP^L276I
• Gene: Fkrp Location: Chr7:16543192-16550657 bp, - strand Genetic Position: Chr7, 9.15 cM
• Alliance: Fkrp^tm1.1Pg page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:285924
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A leucine to isoleucine mutation at amino acid 276 was inserted into exon 3. In addition, a loxP site was inserted upstream of the exon, and a FRT-flanked neomycin selection cassette and second loxP site were inserted downstream of exon 3. Flp-mediated recombination removed the neomycin selection cassette. This is a common mutation found in Limb-girdle muscular dystrophy type 2I patients. (J:285924)

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Fkrp Mutation: 21 strains or lines available

References

• Original: J:285924 Krag TO, et al., A New Mouse Model of Limb-Girdle Muscular Dystrophy Type 2I Homozygous for the Common L276I Mutation Mimicking the Mild Phenotype in Humans. J Neuropathol Exp Neurol. 2015 Dec;74(12):1137-46
• All: 1 reference(s)