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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
Facial palsy
Severe muscular hypotonia
Generalized muscle weakness
Neck muscle weakness
Diaphragmatic eventration
Disease(s) Associated with MTM1
centronuclear myopathy X-linked

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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory