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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
Chr1:33908225-34308652 bp, + strand
From VEGA annotation of GRCm38

  400428 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 zebrafish

Gene Tree: Dst

Alleles
and
phenotypes
All 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.
 
Phenotype Images(1)
Gene Ontology
(GO)
classifications
All GO classifications: (46 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)
Theiler Stages: 15, 17, 19, 20, 21, 22, 23, 24, 25, 26, 28
Assay TypeResults
Immunohistochemistry 12
RNA in situ 76
Northern blot 4
cDNA source data(32)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(45) Genomic(4) cDNA(40) Other(1)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000044431 (Evidence)
Ensembl Gene ModelENSMUSG00000026131 (Evidence)
Entrez Gene13518 (Evidence)
DFCITC1576702, TC1585741, TC1595050, TC1598453, TC1598748, TC1598767, TC1600756, TC1608590, TC1622611, TC1661495, TC1689875
DoTSDT.101137763, DT.101193853, DT.101336263, DT.101391502, DT.101735940, DT.40139033, DT.490749, DT.492475, DT.55154931, DT.60102470, DT.94253759, DT.94305243, DT.97393280, DT.97414711
PDB2IAK
Consensus CDS ProjectCCDS35534.1, CCDS35535.1, CCDS69874.1, CCDS69875.1
International Mouse Knockout Project StatusDst
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000044431 VEGA Gene Model | MGI Sequence Detail 400428 C57BL/6J ±  kb
transcript OTTMUST00000116985 VEGA | MGI Sequence Detail 23953 Not Applicable 
polypeptide OTTMUSP00000065432 VEGA | MGI Sequence Detail 7717 Not Applicable 

For the selected sequences
All sequences(208) RefSeq(68) UniProt(16)
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(141)
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
07/15/2014
MGI 5.18
The Jackson Laboratory