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 Type	Results
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 Model	OTTMUSG00000044431 (Evidence)
Ensembl Gene Model	ENSMUSG00000026131 (Evidence)
Entrez Gene	13518 (Evidence)
DFCI	TC1576702, TC1585741, TC1595050, TC1598453, TC1598748, TC1598767, TC1600756, TC1608590, TC1622611, TC1661495, TC1689875
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
Consensus CDS Project	CCDS35534.1, CCDS35535.1, CCDS69874.1, CCDS69875.1
International Mouse Knockout Project Status	Dst

Sequences

Length	Strain/Species
genomic	OTTMUSG00000044431	VEGA Gene Model | MGI Sequence Detail	400428	C57BL/6J
transcript	OTTMUST00000116985	VEGA | MGI Sequence Detail	23953	Not Applicable
polypeptide	OTTMUSP00000065432	VEGA | MGI Sequence Detail	7717	Not Applicable

All sequences(208) RefSeq(68) UniProt(16)

Polymorphisms

RFLP(2) : SNPs within 2kb(3661 from dbSNP Build 137)

Protein-related information

Resource	ID	Description
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