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Fkrptm1Scbr
Targeted Allele Detail
Nomenclature
Symbol: Fkrptm1Scbr
Name: fukutin related protein; targeted mutation 1, S C Brown
MGI ID: MGI:4835411
Synonyms: FKRPKD, FKRP-NeoTyr307Asn
Gene: Fkrp  Location: Chr7:16809246-16816732 bp, - strand  Genetic Position: Chr7, 9.15 cM
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 detailsA 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)
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: 19 anatomical structures
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:  14 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)

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
08/06/2019
MGI 6.14
The Jackson Laboratory