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Targeted Allele Detail
Symbol: Ush1ctm1.1Ugds
Name: USH1 protein network component harmonin; targeted mutation 1.1, Unite de Genetique des Deficits Sensoriels
MGI ID: MGI:3757683
Synonyms: HMN ex1del
Gene: Ush1c  Location: Chr7:46195350-46238490 bp, - strand  Genetic Position: Chr7, 29.66 cM, cytoband B3
Germline Transmission:  Earliest citation of germline transmission: J:135991
Parent Cell Line:  CK35 (ES Cell)
Strain of Origin:  129S2/SvPas
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsExon 1 was replaced with a floxed neo cassette, exon 1 and an additional loxP site downstream of exon 1. Cre mediated recombination was used to remove exon 1. The absence of transcript was confirmed by RT-PCR analysis on inner ear and brain extracts. (J:135991)
Inheritance:    Recessive
View phenotypes and curated references for all genotypes (concatenated display).
In Mice Carrying this Mutation: 1 assay results
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Ush1c Mutation:  33 strains or lines available
Original:  J:135991 Lefevre G, et al., A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth. Development. 2008 Apr;135(8):1427-37
All:  6 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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MGI 6.14
The Jackson Laboratory