Fkrp^tm1Itl
Targeted Allele Detail

Summary

• Symbol: Fkrp^tm1Itl
• Name: fukutin related protein; targeted mutation 1, inGenious Targeting Laboratory
• MGI ID: MGI:4834518
• Synonyms: FKRP-neo-P448L, Fkrp^tm1Igl, P448Lneo+
• Gene: Fkrp Location: Chr7:16543192-16550657 bp, - strand Genetic Position: Chr7, 9.15 cM
• Alliance: Fkrp^tm1Itl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:164448
• Parent Cell Line: iTL BA1 (ES Cell)
• Strain of Origin: (C57BL/6NTac x 129S6/SvEvTac)F1

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, 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 cre-mediated recombination. This allele mimics a mutation found in certain human congenital muscular dystrophies (MDC1C) patients. In mice carrying this allele, muscle and heart cells lack glycosylation of alpha-dystroglycan. (J:164448)

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Fkrp Mutation: 21 strains or lines available

References

• Original: J:164448 Chan YM, et al., Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies. Hum Mol Genet. 2010 Oct 15;19(20):3995-4006
• All: 19 reference(s)