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 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

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
International Mouse Knockout Project Status	Dst

Sequences

Length	Strain/Species
genomic	ENSMUSG00000026131	Ensembl Gene Model | MGI Sequence Detail	296826	C57BL/6J
transcript	ENSMUST00000115104	Ensembl | MGI Sequence Detail	23279	Not Applicable
polypeptide	ENSMUSP00000110756	Ensembl | MGI Sequence Detail	7406	Not Applicable

All sequences(89) RefSeq(8) UniProt(7)

Polymorphisms

RFLP(2) : SNPs(2323 from dbSNP Build 128)

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: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