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Gene Detail
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
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

alleles, and
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)
Dst interacts with 445 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
All GO classifications: (46 annotations)
Process axonogenesis, cell adhesion, ...
Component actin cytoskeleton, cell, ...
Function actin binding, calcium ion binding, ...
External Resources: FuncBase
Literature Summary: (17 records)
Data Summary: Results (92)    Tissues (50)    Images (50)
Theiler Stages: 15, 17, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28
Assay TypeResults
Immunohistochemistry 12
RNA in situ 76
Northern blot 4
cDNA source data(32)
External Resources: Allen Institute   GEO   Expression Atlas
All nucleic(45) Genomic(4) cDNA(40) Other(1)
Microarray probesets(5)
Other database
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
Consensus CDS ProjectCCDS35534.1, CCDS35535.1, CCDS69874.1, CCDS69875.1
International Mouse Knockout Project StatusDst
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(213) RefSeq(68) UniProt(16)
Polymorphisms RFLP(2) : SNPs within 2kb(3661 from dbSNP Build 137)
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)
Disease annotation references (1)
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
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last database update
MGI 5.19
The Jackson Laboratory