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Fktntm2(FCMD)Ttd
Targeted Allele Detail
Nomenclature
Symbol: Fktntm2(FCMD)Ttd
Name: fukutin; targeted mutation 2, Tatsushi Toda
MGI ID: MGI:3690337
Synonyms: FtknHp
Gene: Fktn  Location: Chr4:53713998-53765785 bp, + strand  Genetic Position: Chr4, 28.74 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:114512
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
 
Fktntm2(FCMD)Ttd expresses 1 gene
 
Mutation detailsExon 10 was removed from the locus via Cre mediated expression following the insertion of lox71 and loxP sites. Human FCMD exon 10 cDNA from a patient with Fukuyama Congenital Muscular Dystrophy with the causative retrotransposon was inserted between the lox66 and loxP sites of the targeting construct. Transcript expression level is 5% to 10% of normal. (J:114512)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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 Fktn Mutation:  3 strains or lines available
References
Original:  J:114512 Xiong H, et al., Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan. Biochem Biophys Res Commun. 2006 Dec 1;350(4):935-41
All:  3 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
07/21/2015
MGI 5.22
The Jackson Laboratory