Mtm1
Gene Detail

Symbol Name ID

Mtm1 X-linked myotubular myopathy gene 1 MGI:1099452

Feature Type

protein coding gene

Genetic Map

Chromosome X

36.55 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

ChrX:71215006-71315691 bp, + strand From VEGA annotation of GRCm38   100686 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:37279  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Mtm1

Human homologs

Human Homolog		MTM1, myotubularin 1
NCBI Gene ID		4534
neXtProt AC		NX_Q13496
Human Synonyms		CNM, MTMX, XLMTM
Human Chr (Location)		Xq28; chrX:149737047-149841616 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human MTM1

Alleles and phenotypes

All alleles(28) : Targeted(6) Gene trapped(21) Spontaneous(1)
 

Hemizygotes for targeted null mutations develop a generalized, progressive myopathy beginning around 1 month and leading to death at 6-14 weeks of age. Mutant mice show amyotrophy with accumulation of central nuclei in skeletal muscle fibers.

 
Human Diseases Modeled Using Mouse Mtm1 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(3)

Gene Ontology (GO) classifications

All GO classifications: (33 annotations)

Process	dephosphorylation, endosome to lysosome transport, ...
Component	cell projection, cytoplasm, ...
Function	hydrolase activity, intermediate filament binding, ...

External Resources: FuncBase

Expression

Literature Summary: (4 records)
Data Summary: Results (1)    Tissues (1)   
Theiler Stages: 14

Assay Type	Results
RNA in situ	1

cDNA source data(7)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(11) cDNA(11)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000017829 (Evidence)
Ensembl Gene Model	ENSMUSG00000031337 (Evidence)
Entrez Gene	17772 (Evidence)
DFCI	TC1580326, TC1620842
DoTS	DT.101172245, DT.101228803, DT.101367897, DT.485902, DT.94189008, DT.97340458, DT.97389889, DT.99856399
NIA Mouse Gene Index	U019915
EC	3.1.3.64
Consensus CDS Project	CCDS30177.1, CCDS53089.1, CCDS53090.1
International Mouse Knockout Project Status	Mtm1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000017829	VEGA Gene Model | MGI Sequence Detail	100686	C57BL/6J
transcript	OTTMUST00000043169	VEGA | MGI Sequence Detail	3338	Not Applicable
polypeptide	OTTMUSP00000019421	VEGA | MGI Sequence Detail	603	Not Applicable

All sequences(75) RefSeq(10) UniProt(6)

Polymorphisms

SNPs(346 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR004182	GRAM
InterPro	IPR017906	Myotubularin phosphatase domain
InterPro	IPR010569	Myotubularin-related
InterPro	IPR000387	Protein-tyrosine/Dual-specificity phosphatase
InterPro	IPR016130	Protein-tyrosine phosphatase, active site
InterPro	IPR000242	Protein-tyrosine phosphatase, receptor/non-receptor type
Protein Ontology	PR:000010730	myotubularin

References

(Earliest) J:62647 Laporte J, et al., Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. Hum Mol Genet. 1998 Oct;7(11):1703-12
(Latest) J:194988 Lawlor MW, et al., Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy. Hum Mol Genet. 2013 Apr 15;22(8):1525-38
All references(53)

Other accession IDs

MGI:2147839