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

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Whrn ± 2 cM)

Gene Tree: Whrn

Human ortholog

DFNB31 deafness, autosomal recessive 31 NCBI Gene ID 25861
Human Synonyms: CIP98, USH2D, WHRN, WI
Human Chr9:117164360-117267736 bp, - strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human DFNB31 (2)

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: (28 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 (40)    Tissues (38)   
Theiler Stages: 17, 20, 22, 24, 26, 28

Assay Type	Results
RNA in situ	40

cDNA source data(36)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(40) Genomic(3) cDNA(36) Primer pair(1)
Microarray probesets(6)

Other database links

VEGA Gene Model	OTTMUSG00000000249 (Evidence)
Ensembl Gene Model	ENSMUSG00000039137 (Evidence)
Entrez Gene	73750 (Evidence)
UniGene	300397
DFCI	TC1580808, TC1595431, TC1596001, TC1635500, TC1688373, TC1715537, TC1716955
DoTS	DT.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 Index	U025152
Consensus CDS Project	CCDS18255.1, CCDS18256.1, CCDS18257.1, CCDS18258.1, CCDS18259.1, CCDS38778.1, CCDS51204.1
International Mouse Knockout Project Status	Whrn

Sequences

Length	Strain/Species
genomic	OTTMUSG00000000249	VEGA Gene Model | MGI Sequence Detail	81082	C57BL/6J
transcript	OTTMUST00000042551	VEGA | MGI Sequence Detail	4049	Not Applicable
polypeptide	OTTMUSP00000019122	VEGA | MGI Sequence Detail	918	Not Applicable

All sequences(135) RefSeq(20) UniProt(11)

Polymorphisms

SNPs(322 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:179695 Wang L, et al., Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type II. Hum Mol Genet. 2012 Feb 1;21(3):692-710
All references(64)

Other accession IDs

MGD-MRK-15434, MGI:1921000, MGI:1924874, MGI:2140557, MGI:2140611, MGI:98950