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Targeted Allele Detail
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
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
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Single point mutation
Mutation detailsExon 3 was replaced with neo cassette flanked by loxP and FRT sites and a modified exon 3 in which a C to T transition at position 1343 (C1343T) results in the amino acid substitution of leucine for proline at position 448 (P448L), mimicking a mutation associated with certain congenital muscular dystrophies (MDC1C) in human. Muscle and heart cells lack glycosylation of alpha-dystroglycan. (J:164448)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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:  12 strains or lines available
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:  9 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.13
The Jackson Laboratory