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Fktntm1Ttd
Targeted Allele Detail
Nomenclature
Symbol: Fktntm1Ttd
Name: fukutin; targeted mutation 1, Tatsushi Toda
MGI ID: MGI:3577652
Gene: Fktn  Location: Chr4:53713998-53765785 bp, + strand  Genetic Position: Chr4, 28.74 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:97950
Parent Cell Line:  AB2.2 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprtb-m2
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
    A neomycin resistance gene replaced exon 2, removing the sequence encoding amino acids 1-35. (J:97950)
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: 4 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 Fktn Mutation:  5 strains or lines available
Notes
Chimeric mice are dystrophic with an inability to walk a straightline and drag their feet (J:87120). Muscle weakness is also apparent in a hanging wire grip test and positional instability in the rotor-rod test (J:87120). Several brain and eye abnormalities are also present (J:87120). Myelination of peripheral nerves is defective and the chimeric mouse is a model for Fukuyama-type congenital muscular dystrophy, OMIM ID:253800 (J:122554).
References
Original:  J:97950 Kurahashi H, et al., Basement membrane fragility underlies embryonic lethality in fukutin-null mice. Neurobiol Dis. 2005 Jun-Jul;19(1-2):208-17
All:  7 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
07/10/2018
MGI 6.12
The Jackson Laboratory