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Espn Gene Detail
 Symbol
Name
ID
Espn
espin
MGI:1861630


Nomenclature History
Genetic Map
Chromosome 4
80.1 cM, cytoband E1
Detailed Genetic Map ± 1 cM
 
Mapping data( 10)

Sequence Map
Chr4:151494440-151526480 bp, - strand
(From VEGA annotation of NCBI Build 37)
VEGA ContigView | Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; chimpanzee; dog, domestic; rat    (Mammalian Orthology)
Comparative Map (Mouse/Human Espn ± 2 cM)
TreeFam: TF326392
Sequences
Representative Sequences Length Strain/Species Flank
genomic OTTMUSG00000010307 VEGA Gene Model | MGI Sequence Detail 32041 C57BL/6J ± Kb
transcript NM_207687 RefSeq | MGI Sequence Detail 2861 C57BL/6
polypeptide Q9ET47 UniProt | EBI | MGI Sequence Detail 871 Not Applicable
For the selected sequences
All sequences(56)
Alleles
and
phenotypes
All alleles(3) : Gene trapped(2) Spontaneous(1)
Homozygotes for a spontaneous mutation exhibit progressive degeneration of both inner and outer hair cells, severe deafness, vestibular dysfunction, and poor mothering ability. Heterozygotes show a progressive, age-related hearing loss.
Polymorphisms PCR(1) SNPs within 2kb(135 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications(15)
Process actin filament bundle formation, actin filament network formation...
Component actin cytoskeleton, brush border...
Function actin binding
External Resources: MouseFunc
Expression Literature Summary: (3 records)
Data Summary: Assays (1)    Results (6)    Tissues (3)    Images (2)
Theiler Stages: 17
  Assay Type Assays   Results
      Immunohistochemistry 1   6
cDNA source data(27)
External Resources: GEO 
Molecular
reagents
All nucleic(30) Genomic(2) cDNA(27) Primer pair(1) Antibodies(1)
Microarray probesets(2)
Other database
links
Ensembl Gene Model ENSMUSG00000028943
DoTS DT.101267467, DT.101381402, DT.101381407, DT.103560486, DT.110838101, DT.110838119, DT.50316097, DT.91378343, DT.94140202
UniGene 264215
DFCI TC1584345, TC1600605, TC1622620, TC1705656
NIA Mouse Gene Index U025838
Entrez Gene 56226
VEGA Gene Model OTTMUSG00000010307
International Mouse Knockout Project Status Espn
Protein
domains
InterPro ID Description
IPR002110 Ankyrin repeat
IPR003124 Actin-binding WH2
Graphical View of Protein Domain Structure
References
(Earliest) J:13121 Gruneberg H et al., "The origin of jerker, a new gene mutation of the house mouse, and linkage studies made with it." Proc Natl Acad Sci U S A 1941 Dec 15;27(12):562-565
(Latest) J:132913 Cabraja M et al., "Vestibular ganglion neurons survive hair cell defects in jerker, shaker, and Varitint-waddler mutants and downregulate calretinin expression." J Comp Neurol 2007 Oct 1;504(4):418-26
All references(39)
Other
accession IDs
MGD-MRK-11524, MGI:96636

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