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Symbol
Name
ID
Mtm1
X-linked myotubular myopathy gene 1
MGI:1099452
Phenotype annotations related to muscle
Darker colors indicate more annotations
Human Phenotypes
Flexion contracture
Hip contracture
Facial palsy
Neck muscle weakness
Scapular winging
Axial muscle weakness
Centrally nucleated skeletal muscle fibers
Ring fibers
Skeletal muscle atrophy
Generalized amyotrophy
Skeletal muscle hypertrophy
EMG: myopathic abnormalities
Muscular hypotonia
Generalized hypotonia
Neonatal hypotonia
Severe muscular hypotonia
EMG abnormality
Easy fatigability
Muscle cramps
Muscle weakness
Distal muscle weakness
Generalized muscle weakness
Progressive muscle weakness
Proximal muscle weakness
Gowers sign
Respiratory insufficiency due to muscle weakness
Diaphragmatic eventration
Disease(s) Associated with MTM1
centronuclear myopathy

Mouse Phenotypes
abnormal Z line morphology
abnormal skeletal muscle fiber morphology
decreased skeletal muscle fiber size
skeletal muscle fiber atrophy
increased variability of skeletal muscle fiber size
centrally nucleated skeletal muscle fibers
decreased muscle weight
abnormal gastrocnemius morphology
decreased gastrocnemius weight
decreased quadriceps weight
decreased tibialis anterior weight
skeletal muscle atrophy
decreased skeletal muscle mass
muscular atrophy
abnormal muscle physiology
progressive muscle weakness
myopathy
Availability Mouse Genotype
Mtm1Gt(OST290577)Lex/Y
Mtm1tm1.1Jman/Y
Mtm1tm1Itl/Y
Mtm1tm1.2Jman/Y
Tg(ACTA1-cre)79Jme/?  (conditional)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
03/19/2019
MGI 6.13
The Jackson Laboratory