Fkrp^tm1.2Itl
Targeted Allele Detail

Summary

• Symbol: Fkrp^tm1.2Itl
• Name: fukutin related protein; targeted mutation 1.2, inGenious Targeting Laboratory
• MGI ID: MGI:5897355
• Synonyms: FKRP^P448L, Fkrp^tm1.1Qil
• Gene: Fkrp Location: Chr7:16543192-16550657 bp, - strand Genetic Position: Chr7, 9.15 cM
• Alliance: Fkrp^tm1.2Itl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:240736
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Exon 3 was targeted with a point mutation changing residue 1343 in the coding region from C to T (c.1343C>T). This results in a P448L (p.Pro448Leu) substitution in the translated peptide. An FRT and loxP site flanked neomycin resistance gene cassette that was inserted into intron 2 was removed through flp-mediated recombination. This allele mimics a mutation found in human limb-girdle muscular dystrophy type 2I (LGMD2I) patients. (J:240736)

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:240736 Vannoy CH, et al., Adeno-Associated Virus-Mediated Mini-Agrin Delivery Is Unable to Rescue Disease Phenotype in a Mouse Model of Limb Girdle Muscular Dystrophy Type 2I. Am J Pathol. 2017 Feb;187(2):431-440
• All: 2 reference(s)