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Dst Gene Detail
 Symbol
Name
ID
Dst
dystonin
MGI:104627

Nomenclature History
Synonyms 2310001O04Rik, A830042E19Rik, ah, athetoid, Bpag, BPAG1, Bpag1, BPAG1-n, bullous pemphigoid antigen 1, bullous pemphigoid antigen 1, Macf2, mKIAA0728, nmf203, nmf339
Genetic Map
Chromosome 1
16.5 cM
Detailed Genetic Map ± 1 cM
 
Mapping data( 11)

Sequence Map
Chr1:34068670-34365497 bp, + strand
(From NCBI annotation of NCBI Build 37)
Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; rat    (Mammalian Orthology)
Comparative Map (Mouse/Human Dst ± 2 cM)
TreeFam: TF331090
Sequences
Representative Sequences Length Strain/Species Flank
genomic 13518 NCBI Gene Model | MGI Sequence Detail 296828 C57BL/6J ± Kb
transcript NM_134448 RefSeq | MGI Sequence Detail 23319 C57BL/6
polypeptide Q91ZU6 UniProt | EBI | MGI Sequence Detail 7389 Not Applicable
For the selected sequences
All sequences(80)
Alleles
and
phenotypes 		All alleles(196) : Targeted, knock-out(1) Gene trapped(175) 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)  
Polymorphisms RFLP(2) SNPs within 2kb(2331 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications(19)
Process axonogenesis, cell adhesion...
Component actin cytoskeleton, cytoplasm...
Function actin binding, calcium ion binding...
External Resources: MouseFunc
Expression Literature Summary: (14 records)
Data Summary: Assays (6)    Results (49)    Tissues (40)    Images (32)
Theiler Stages: 15,17,19,20,21,22,23,24,25,26,28
  Assay Type Assays   Results
      RNA in situ 2   33
      Immunohistochemistry 3   12
      Northern blot 1   4
cDNA source data(29)
External Resources: Allen Brain Atlas  GEO 
Molecular
reagents 		All nucleic(42) Genomic(4) cDNA(37) Other(1) Antibodies(2)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000026131
DoTS DT.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
PDB 2IAK
DFCI TC1576702, TC1585741, TC1595050, TC1598453, TC1598748, TC1598767, TC1600756, TC1608590, TC1622611, TC1661495, TC1689875
Entrez Gene 13518
International Mouse Knockout Project Status Dst
Protein
domains
InterPro ID Description
IPR001101 Plectin repeat
IPR001589 Actinin-type, actin-binding, conserved site
IPR001715 Calponin-like actin-binding
IPR002017 Spectrin repeat
IPR002048 Calcium-binding EF-hand
IPR003108 Growth-arrest-specific protein 2
IPR011992 EF-hand-like domain
IPR016146 Calponin-homology
IPR018159 Spectrin/alpha-actinin
IPR018247 EF-Hand 1, calcium-binding site
IPR018248 EF-Hand domain
IPR018249 EF-HAND 2
Graphical View of Protein Domain Structure
References
(Earliest) J:24773 Lane PW, "New mutants: Dancer, Athetoid, and mahogany" Mouse News Lett 1958;19():25
(Latest) J:139985 Ichikawa H et al., "The number of nociceptors in the trigeminal ganglion but not proprioceptors in the mesencephalic trigeminal tract nucleus is reduced in dystonin deficient dystonia musculorum mice." Brain Res 2008 Aug 21;1226():33-8
All references(96)
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
11/20/2009
MGI_4.31
Web browser compatibility 		The Jackson Laboratory