Fkrp^tm1Scbr
Targeted Allele Detail

Summary

• Symbol: Fkrp^tm1Scbr
• Name: fukutin related protein; targeted mutation 1, S C Brown
• MGI ID: MGI:4835411
• Synonyms: FKRP^KD, FKRP-Neo^Tyr307Asn
• Gene: Fkrp Location: Chr7:16543192-16550657 bp, - strand Genetic Position: Chr7, 9.15 cM
• Alliance: Fkrp^tm1Scbr page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:164634
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Conditional ready, No functional change)
• Mutations: Insertion, Single point mutation
• Mutation details: A point mutation of a T to an A at 919, that results in a Tyr to Asn amino acid change at residue 307 and a floxed neomycin cassette within intron 2 were inserted by homologous recombination. Quantitative real time PCR showed that mice expressed only 40% of the wild-type level of mRNA. Western blotting showed a reduction in the band intensity in brain, skeletal muscle and heart relative to wild-type. (J:164634)

Disease models

Expression

In Structures Affected by this Mutation:

17 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Fkrp Mutation: 21 strains or lines available

References

• Original: J:164634 Ackroyd MR, et al., Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies. Brain. 2009 Feb;132(Pt 2):439-51
• All: 5 reference(s)