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| Nomenclature |
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Symbol:
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Fktntm2(FCMD)Ttd
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Name:
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fukutin;
targeted mutation 2, Tatsushi Toda
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MGI ID: |
MGI:3690337 |
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Synonyms: |
FtknHp |
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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:114512
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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Not Specified
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Insertion |
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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)
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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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| References |
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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
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All: |
3 reference(s)
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Analysis Tools
