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Whrn
Gene Detail
 Symbol
Name
ID
Whrn
whirlin
MGI:2682003
Synonyms 1110035G07Rik, C430046P22Rik, Dfnb31, mKIAA1526, wi
Feature Type protein coding gene
Genetic Map
Chromosome 4
33.97 cM, cytoband C1
Detailed Genetic Map ± 1 cM


Mapping data(26)
Sequence Map
Chr4:63414910-63495991 bp, - strand
From VEGA annotation of GRCm38

  81082 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:18739  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Whrn

Human
homologs
Human Homolog DFNB31, deafness, autosomal recessive 31
NCBI Gene ID 25861
neXtProt AC  NX_Q9P202
Human Synonyms  CIP98, PDZD7B, USH2D, WHRN, WI
Human Chr (Location)  9q32; chr9:114402080-114505509 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human DFNB31
Alleles
and
phenotypes
All alleles(8) : Targeted(7) Spontaneous(1)
 
Homozygous mutants exhibit circling, head-shaking, hyperactivity and deafness. Mice homozygous for a knock-out allele of the long form exhibit retinal degeneration, profoundly impaired hearing, and abnormal cochlear hair cell stereociliary bundles.
 
Human Diseases Modeled Using Mouse Whrn (2)    Alleles Annotated to Human Diseases(2)   
Gene Ontology
(GO)
classifications
All GO classifications: (31 annotations)
Process inner ear receptor stereocilium organization, retina homeostasis, ...
Component actin filament, axon, ...
Function protein binding, protein domain specific binding
External Resources: FuncBase
Expression
Literature Summary: (6 records)
Data Summary: Results (44)    Tissues (39)   
Theiler Stages: 17, 20, 22, 24, 26, 28
Assay TypeResults
Immunohistochemistry 2
RNA in situ 40
Western blot 2
cDNA source data(8)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(12) Genomic(3) cDNA(8) Primer pair(1)
Microarray probesets(6)
Other database
links
VEGA Gene ModelOTTMUSG00000000249 (Evidence)
Ensembl Gene ModelENSMUSG00000039137 (Evidence)
Entrez Gene73750 (Evidence)
DFCITC1580808, TC1595431, TC1596001, TC1635500, TC1688373, TC1715537, TC1716955
DoTSDT.101316445, DT.101706910, DT.110814750, DT.110814752, DT.110814765, DT.110814774, DT.50316212, DT.55157651, DT.87030831, DT.94153326, DT.94304312, DT.94304319, DT.97394516
NIA Mouse Gene IndexU025152
Consensus CDS ProjectCCDS18255.1, CCDS18256.1, CCDS18257.1, CCDS18258.1, CCDS18259.1, CCDS38778.1, CCDS51204.1
International Mouse Knockout Project StatusWhrn
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000000249 VEGA Gene Model | MGI Sequence Detail 81082 C57BL/6J ±  kb
transcript OTTMUST00000042551 VEGA | MGI Sequence Detail 4049 Not Applicable 
polypeptide OTTMUSP00000019122 VEGA | MGI Sequence Detail 918 Not Applicable 

For the selected sequences
All sequences(128) RefSeq(18) UniProt(6)
Polymorphisms SNPs within 2kb(544 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001478 PDZ domain
Protein Ontology PR:000017417 whirlin
References (Earliest) J:269 Lane PW, Whirler mice, a recessive behavior mutation in linkage group VIII. J Hered. 1963 Nov-Dec;54:263-6
(Latest) J:202030 Green JA, et al., Whirlin, a cytoskeletal scaffolding protein, stabilizes the paranodal region and axonal cytoskeleton in myelinated axons. BMC Neurosci. 2013 Sep 6;14(1):96
All references(65)
Other
accession IDs
MGD-MRK-15434, MGI:1921000, MGI:1924874, MGI:2140557, MGI:2140611, MGI:98950

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
04/08/2014
MGI 5.17
The Jackson Laboratory