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| Nomenclature |
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Symbol:
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Dfnb59tm1Ugds
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Name:
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deafness, autosomal recessive 59 (human);
targeted mutation 1, Unite de Genetique des Deficits Sensoriels
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MGI ID: |
MGI:3654320 |
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Gene:
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Dfnb59
Location:
Chr2:76648476-76658556 bp, + strand
Genetic Position: Chr2,
45.08 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:111260
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Parent Cell Line:
| CK35 (ES Cell) |
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Strain of Origin:
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129S2/SvPas
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Single point mutation |
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Mutation details: An R183W mutation was inserted into exon 3 via homologous recombination. A floxed neo cassette was removed by Cre mediated recombination. Expression pattern of the mutant protein is similar to wild-type. (J:111260)
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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 Dfnb59 Mutation:
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0 strains or lines available |
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| References |
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Original: |
J:111260
Delmaghani S et al.,
"Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy."
Nat Genet 2006 Jul;38(7):770-8
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All: |
1 reference(s)
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Analysis Tools
