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Dst
Gene Detail
Symbol

Name
ID
Dst
dystonin
MGI:104627
Synonyms
2310001O04Rik, A830042E19Rik, ah, athetoid, Bpag, Bpag1, BPAG1, BPAG1-n, bullous pemphigoid antigen 1, bullous pemphigoid antigen 1, Macf2, mKIAA0728, nmf203, nmf339
Feature Type
protein coding gene
Genetic Map
Chromosome 1
12.91 cM
Detailed Genetic Map ± 1 cM


Mapping data(11)
Sequence Map
Chr1:33908225-34308661 bp, + strand
From VEGA annotation of GRCm38

  400437 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:136716  Vertebrate Homology Class
1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Dst

Mutations,
alleles, and
phenotypes
All mutations/alleles(297) : Chemically induced (ENU)(3) Chemically induced (other)(1) Gene trapped(274) Spontaneous(15) Targeted(3) Transgenic(1)
Incidental mutations (data from Mutagenetix , APF )
 
Mutations in this gene produce peripheral nervous system demyelination resulting in impaired muscle function and shorter lifespan.
 
Human Diseases Modeled Using Mouse Dst (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(1)
Interactions
Dst interacts with 445 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (47 annotations)
Process axonogenesis, cell adhesion, ...
Component actin cytoskeleton, cell, ...
Function actin binding, calcium ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (17 records)
Data Summary: Results (92)    Tissues (50)    Images (50)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 12
RNA in situ 76
Northern blot 4
cDNA source data(32)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(45) Genomic(4) cDNA(40) Other(1)
Microarray probesets(5)
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000044431 VEGA Gene Model | MGI Sequence Detail 400437 C57BL/6J ±  kb
transcript OTTMUST00000116985 VEGA | MGI Sequence Detail 24236 Not Applicable 
polypeptide OTTMUSP00000065432 VEGA | MGI Sequence Detail 7717 Not Applicable 

For the selected sequences
All sequences(219) RefSeq(68) UniProt(22)
Polymorphisms
RFLP(2) : SNPs within 2kb(3661 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001589 Actinin-type, actin-binding, conserved site
InterPro IPR001715 Calponin homology domain
InterPro IPR018247 EF-Hand 1, calcium-binding site
InterPro IPR002048 EF-hand domain
InterPro IPR011992 EF-hand-like domain
InterPro IPR003108 Growth-arrest-specific protein 2 domain
InterPro IPR001101 Plectin repeat
InterPro IPR018159 Spectrin/alpha-actinin
InterPro IPR002017 Spectrin repeat
Protein Ontology PR:000031275 dystonin
References
(Earliest) J:24773 Lane PW, New mutants: Dancer, Athetoid, and mahogany. Mouse News Lett. 1958;19:25
(Latest) J:209161 Ferrier A, et al., Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI. Hum Mol Genet. 2014 May 15;23(10):2694-710
All references(142)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-1199, MGD-MRK-1612, MGD-MRK-1613, MGD-MRK-26064, MGD-MRK-8910, MGI:1916744, MGI:2138613, MGI:2444206, MGI:2681949, MGI:3580062

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
12/09/2014
MGI 5.20
The Jackson Laboratory