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| Nomenclature |
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Symbol:
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Fgd4tm1.1Ics
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Name:
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FYVE, RhoGEF and PH domain containing 4;
targeted mutation 1.1, Mouse Clinical Institute
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MGI ID: |
MGI:5460858 |
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Synonyms: |
Fgd4- |
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Gene:
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Fgd4
Location:
Chr16:16416917-16600549 bp, - strand
Genetic Position: Chr16,
10.18 cM
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:190437
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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-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: The loxP flanked exon 4 was removed via cre-mediated recombination, generating a premature stop codon in exon 5 because of a frame shift. Western blot analysis confirmed lack of protein expression in sciatic nerve. (J:190437)
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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 Fgd4 Mutation:
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45 strains or lines available |
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| References |
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Original: |
J:190437
Horn M et al.,
"Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells."
Brain 2012 Dec;135(Pt 12):3567-83
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All: |
1 reference(s)
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