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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
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:70254373-70359019 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 36.55 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    384 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1099452
 protein coding gene ChrX:70254373-70359297 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035781
 protein coding gene ChrX:66846741-66953051 (+)
A/J MGP_AJ_G0035764
 protein coding gene ChrX:67064612-67183717 (+)
AKR/J MGP_AKRJ_G0035686
 protein coding gene ChrX:68883790-68996966 (+)
BALB/cJ MGP_BALBcJ_G0035751
 protein coding gene ChrX:66166629-66276761 (+)
C3H/HeJ MGP_C3HHeJ_G0035454
 protein coding gene ChrX:67338847-67453244 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036281
 protein coding gene ChrX:68881629-68997671 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033128
 protein coding gene ChrX:65939530-66051049 (+)
CAST/EiJ MGP_CASTEiJ_G0034746
 protein coding gene ChrX:52752297-52863233 (+)
CBA/J MGP_CBAJ_G0035429
 protein coding gene ChrX:70793613-70919726 (+)
DBA/2J MGP_DBA2J_G0035582
 protein coding gene ChrX:66592261-66701980 (+)
FVB/NJ MGP_FVBNJ_G0035533
 protein coding gene ChrX:65958240-66064267 (+)
LP/J MGP_LPJ_G0035671
 protein coding gene ChrX:67677114-67782231 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035568
 protein coding gene ChrX:73326801-73433819 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036302
 protein coding gene ChrX:66702170-66818537 (+)
PWK/PhJ MGP_PWKPhJ_G0034446
 protein coding gene ChrX:50791989-50898278 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034282
 protein coding gene ChrX:53654856-53766048 (+)
WSB/EiJ MGP_WSBEiJ_G0034888
 protein coding gene ChrX:66045629-66155953 (+)



Homology
more
  • Human Ortholog
    MTM1, myotubularin 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MTM1, myotubularin 1
  • Synonyms
    CNM, CNMX, MTMX, XLMTM
  • Links
    NCBI Gene ID: 4534
    neXtProt AC: NX_Q13496
    UniProt: Q13496

  • Chr Location
    Xq28; chrX:150562653-150673143 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Mtm1 mouse models; 1 with human MTM1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

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

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
    61
  • GO References
    12
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    715
  • Tissues
    3
  • cDNA Data
    8
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 17772 NCBI Gene Model | MGI Sequence Detail 104647 C57BL/6J ±  kb
    transcript NM_001164190 RefSeq | MGI Sequence Detail 3484 C57BL/6  
    polypeptide Q9Z2C5 UniProt | EBI | MGI Sequence Detail 603 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 13
      cDNA 12
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2147839
    References
    more
    • Summaries
      All 76
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 12
      Phenotypes 41
    • 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:341022 Massana-Munoz X, et al., Inactivating the lipid kinase activity of PI3KC2beta is sufficient to rescue myotubular myopathy in mice. JCI Insight. 2023 May 8;8(9)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory