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Ush1c Gene Detail
 Symbol
Name
ID
Ush1c
Usher syndrome 1C homolog (human)
MGI:1919338


Nomenclature History
Synonyms 2010016F01Rik, harmonin
Genetic Map
Chromosome 7
23.0 cM, cytoband B3
Detailed Genetic Map ± 1 cM
 
Mapping data( 3)

Sequence Map
Chr7:53450720-53493873 bp, - strand
(From VEGA annotation of NCBI Build 37)
VEGA ContigView | Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; rat    (Mammalian Orthology)
Comparative Map (Mouse/Human Ush1c ± 2 cM)
TreeFam: TF325033
Sequences
Representative Sequences Length Strain/Species Flank
genomic OTTMUSG00000025998 VEGA Gene Model | MGI Sequence Detail 43154 C57BL/6J ± Kb
transcript NM_001163733 RefSeq | MGI Sequence Detail 3073 C57BL/6
polypeptide Q9ES64 UniProt | EBI | MGI Sequence Detail 910 Not Applicable
For the selected sequences
All sequences(26)
Alleles
and
phenotypes
All alleles(7) : Targeted, knock-out(1) Targeted, other(3) Spontaneous(3)
Mutations at this locus affect hearing and result in movement anomalies generally associated with vestibular mutants, such as head tossing and circling.
Associated Human Diseases (2)   Alleles Annotated to Human Diseases (4)  
Polymorphisms SNPs within 2kb(457 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications(15)
Process actin filament bundle formation, auditory receptor cell differentiation...
Component photoreceptor inner segment, photoreceptor outer segment...
Function protein binding
This is a GO Consortium Reference Genome Project gene.
External Resources: MouseFunc
Expression Literature Summary: (4 records)
Data Summary: Assays (1)    Results (1)    Tissues (1)    Images (1)
Theiler Stages: 22
  Assay Type Assays   Results
      RNA in situ 1   1
cDNA source data(3)
External Resources: Allen Brain Atlas  GEO 
Molecular
reagents
All nucleic(3) cDNA(3)
Microarray probesets(2)
Other database
links
Ensembl Gene Model ENSMUSG00000030838
DoTS DT.101361011, DT.101361012, DT.103560300, DT.40171337
PDB 1V6B
DFCI TC1585702, TC1595345
NIA Mouse Gene Index U028552
Entrez Gene 72088
VEGA Gene Model OTTMUSG00000025998
International Mouse Knockout Project Status Ush1c
Protein
domains
InterPro ID Description
IPR001478 PDZ/DHR/GLGF
Graphical View of Protein Domain Structure
References
(Earliest) J:65060 Kawai J et al., "Functional annotation of a full-length mouse cDNA collection." Nature 2001 Feb 8;409(6821):685-90
(Latest) J:141421 Verpy E et al., "Stereocilin-deficient mice reveal the origin of cochlear waveform distortions." Nature 2008 Nov 13;456(7219):255-8
All references(19)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/20/2009
MGI_4.31
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The Jackson Laboratory