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| Nomenclature |
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Symbol:
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Fktntm1Ttd
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Name:
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fukutin;
targeted mutation 1, Tatsushi Toda
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MGI ID: |
MGI:3577652 |
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Gene:
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Fktn
Location:
Chr4:53713998-53765785 bp, + strand
Genetic Position: Chr4,
28.74 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:97950
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Parent Cell Line:
| AB2.2 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprtb-m2
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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A neomycin resistance gene replaced exon 2, removing the sequence encoding amino acids 1-35. (J:97950)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Fktn Mutation:
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3 strains or lines available |
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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).
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| References |
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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
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All: |
5 reference(s)
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Analysis Tools
