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Fkrptm1Itl
Targeted Allele Detail
Nomenclature
Symbol: Fkrptm1Itl
Name: fukutin related protein; targeted mutation 1, inGenious Targeting Laboratory
MGI ID: MGI:4834518
Synonyms: FKRP-neo-P448L, Fkrptm1Igl, P448Lneo+
Gene: Fkrp  Location: Chr7:16809246-16816732 bp, - strand  Genetic Position: Chr7, 9.15 cM
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 detailsExon 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 dystrophie (MDC1C) patients. In mice carying this allele, muscle and heart cells lack glycosylation of alpha-dystroglycan. (J:164448)
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: 0 strains available      Cell Lines: 0 lines available
Carrying any Fkrp Mutation:  14 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:  12 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
08/13/2019
MGI 6.14
The Jackson Laboratory