Myot
Gene Detail

Symbol Name ID

Myot myotilin MGI:1889800

Synonyms

5530402I04Rik, Ttid

Feature Type

protein coding gene

Genetic Map

Chromosome 18

23.74 cM, cytoband B3
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr18:44334074-44355724 bp, + strand From VEGA annotation of GRCm38   21651 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:4942  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Myot

Human homologs

Human Homolog		MYOT, myotilin
NCBI Gene ID		9499
neXtProt AC		NX_Q9UBF9
Human Synonyms		LGMD1, LGMD1A, TTID
Human Chr (Location)		5q31; chr5:137203545-137223540 (+)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human MYOT

Alleles and phenotypes

All alleles(4) : Targeted(4)
 

Mice homozygous for a null allele are viable and fertile with normal skeletal and cardiac muscle morphology and function, growth rate, survival, and internal organ morphology.

 

Gene Ontology (GO) classifications

All GO classifications: (9 annotations)

Process	biological_process
Component	cytoplasm, cytoskeleton, ...
Function	actin binding, alpha-actinin binding

External Resources: FuncBase

Expression

Literature Summary: (3 records)
Data Summary: Results (111)    Tissues (46)    Images (40)
Theiler Stages: 12, 14, 16, 18, 21, 23, 24

Assay Type	Results
Immunohistochemistry	9
RNA in situ	102

cDNA source data(13)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(13) cDNA(13)
Microarray probesets(2)

Other database links

VEGA Gene Model	OTTMUSG00000014922 (Evidence)
Ensembl Gene Model	ENSMUSG00000024471 (Evidence)
Entrez Gene	58916 (Evidence)
UniGene	143804
DFCI	TC1581682
DoTS	DT.60117963
NIA Mouse Gene Index	U018687
Consensus CDS Project	CCDS29228.1
International Mouse Knockout Project Status	Myot

Sequences

Length	Strain/Species
genomic	OTTMUSG00000014922	VEGA Gene Model | MGI Sequence Detail	21651	C57BL/6J
transcript	OTTMUST00000035442	VEGA | MGI Sequence Detail	2209	Not Applicable
polypeptide	OTTMUSP00000015858	VEGA | MGI Sequence Detail	496	Not Applicable

All sequences(22) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(146 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR013098	Immunoglobulin I-set
InterPro	IPR007110	Immunoglobulin-like domain
InterPro	IPR013783	Immunoglobulin-like fold
InterPro	IPR003599	Immunoglobulin subtype
InterPro	IPR003598	Immunoglobulin subtype 2
Protein Ontology	PR:000010881	myotilin

References

(Earliest) J:64352 Hauser MA, et al., Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet. 2000 Sep 1;9(14):2141-7
(Latest) J:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582
All references(29)

Other accession IDs

MGI:1921762