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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
Chr1:34011825-34308650 bp, + strand
From Ensembl annotation of GRCm38

  296826 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology 		HomoloGene:133206  Vertebrate Homology Class
1 mouse; 1 rat; 1 chimpanzee

Gene Tree: Dst
Alleles
and
phenotypes 		All alleles(266) : Targeted(3) Gene trapped(243) Transgenic(1) Spontaneous(15) Chemically induced(4)
 
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: (45 annotations)
Process axonogenesis, cell adhesion, ...
Component actin cytoskeleton, cell junction, ...
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
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
International Mouse Knockout Project StatusDst
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000026131 Ensembl Gene Model | MGI Sequence Detail 296826 C57BL/6J ±  kb
transcript ENSMUST00000115104 Ensembl | MGI Sequence Detail 23279 Not Applicable 
polypeptide ENSMUSP00000110756 Ensembl | MGI Sequence Detail 7406 Not Applicable 

For the selected sequences
All sequences(89) RefSeq(8) UniProt(7)
Polymorphisms RFLP(2) : SNPs(2323 from dbSNP Build 128)
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:000034872 dystonin
References (Earliest) J:24773 Lane PW, New mutants: Dancer, Athetoid, and mahogany. Mouse News Lett. 1958;19:25
(Latest) J:191641 Oommen S, et al., Cytoplasmic plaque formation in hemidesmosome development is dependent on SoxF transcription factor function. PLoS One. 2012;7(9):e43857
All references(138)
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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Send questions and comments to User Support. 		last database update
06/05/2013
MGI 5.13 		The Jackson Laboratory