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Fkrptm1.1Pg
Targeted Allele Detail
Nomenclature
Symbol: Fkrptm1.1Pg
Name: fukutin related protein; targeted mutation 1.1, PolyGene AG
MGI ID: MGI:6404009
Synonyms: FKRPL276I
Gene: Fkrp  Location: Chr7:16809267-16816732 bp, - strand  Genetic Position: Chr7, 9.15 cM
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 detailsA 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 3 anatomical structures
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:  14 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/23/2021
MGI 6.16
The Jackson Laboratory