About   Help   FAQ
Fktntm2(FCMD)Ttd
Targeted Allele Detail
Summary
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
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
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
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:  44 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:  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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/05/2024
MGI 6.24
The Jackson Laboratory