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Ush1cdfcr
Spontaneous Allele Detail
Nomenclature
Symbol: Ush1cdfcr
Name: Usher syndrome 1C; deaf circler
MGI ID: MGI:2651858
Synonyms: dfcr
Gene: Ush1c  Location: Chr7:46195350-46238503 bp, - strand  Genetic Position: Chr7, 29.66 cM, cytoband B3
Mutation
origin
Strain of Origin:  CBySmn.CB17-Prkdcscid/J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsThe dfcr mutation is 12.7kb deletion of the 28-exon Ush1c gene. The deletion includes the last 118 nucleotides of exon 12, all of exons 13 - 15 and of alternatively spliced, inner ear-specific exons A, B, C and D, and 110 base pairs of the intron following exon D. The transcription product is spliced in all tissues examined so that exon 11 is joined, in frame, to exon 16 to produce an mRNA lacking exons 12, 13, 14 and 15 of the wild-type message, encoding 132 of the 548 amino acids comprising the ubiquitously expressed harmonin isoform a1. In the inner ear, an additional, minor splice product of the mutant transcript results from in-frame splicing of exon 11 to inner ear-specific exon E; this mRNA lacks 1137 nucleotides derived from exons 12, 13, 14, 15, A, B, C and D, encoding 379 amino acids of the wild-type inner ear-specific harmonin isoform b.Whole mount analysis revealed that the mutant protein is mislocalized to the very tips of cochlear stereocilia. (J:85400, J:157359)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Ush1c Mutation:  8 strains or lines available
References
Original:  J:85400 Johnson KR, et al., Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene. Hum Mol Genet. 2003 Dec 1;12(23):3075-86
All:  7 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/07/2015
MGI 5.21
The Jackson Laboratory