Summary | Mutation origin | Mutation description | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Fktntm2(FCMD)Ttd
Name:	fukutin; targeted mutation 2, Tatsushi Toda
MGI ID:	MGI:3690337
Synonyms:	FtknHp
Gene:	Fktn  Location: Chr4:53713745-53765785 bp, + strand  Genetic Position: Chr4, 28.74 cM
Alliance:	Fktntm2(FCMD)Ttd page

Germline Transmission:	Earliest citation of germline transmission: J:114512
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	Not Specified

Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence) Mutation:    Insertion   Fktntm2(FCMD)Ttd expresses 1 gene Knock-in expresses: Organism Expressed Gene Homolog in Mouse Note human FKTN (2218) Fktn  (MGI:2179507)   Mutation details: Exon 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)

View phenotypes and curated references for all genotypes (concatenated display).

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:	44 strains or lines available

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:	5 reference(s)