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Mtm1 Gene Detail
Summary
  • Symbol
    Mtm1
  • Name
    X-linked myotubular myopathy gene 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1099452
    NCBI Gene: 17772
Location & Maps
more
  • Sequence Map
    ChrX:71215006-71315691 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      100686 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    MTM1, myotubularin 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MTM1, myotubularin 1
    Orthology source: HomoloGene
  • Synonyms
    CNM, MTMX, XLMTM
  • Links
    NCBI Gene ID: 4534
    neXtProt AC: NX_Q13496

  • Chr Location
    Xq28; chrX:150562658-150673143 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 37279
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: MTM1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Mtm1 mouse models; 1 with human MTM1 associations

Human Disease Mouse Models
       Myopathy, Centronuclear, X-Linked; CNMX   OMIM: 310400 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    44 phenotypes from 4 alleles in 4 genetic backgrounds
    3 images
    22 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    28
  • Gene trapped
    21
  • Spontaneous
    1
  • Targeted
    6
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017829 VEGA Gene Model | MGI Sequence Detail 100686 C57BL/6J ±  kb
transcript OTTMUST00000043169 VEGA | MGI Sequence Detail 3338 Not Applicable  
polypeptide OTTMUSP00000019421 VEGA | MGI Sequence Detail 603 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    400 from dbSNP Build 137
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 11
    cDNA 11

    Microarray probesets 3
Other
Accession IDs
less
MGI:2147839
References
more
  • Summaries
    All 54
    Developmental Gene Expression 4
    Diseases 3
    Gene Ontology 10
    Phenotypes 22
  • 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:213528 Childers MK, et al., Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy. Sci Transl Med. 2014 Jan 22;6(220):220ra10

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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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory