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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Mtm1
X-linked myotubular myopathy gene 1
MGI:1099452
44 phenotypes from 4 alleles in 4 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Mtm1Gt(OST290577)Lex/Y
involves: 129S5/SvEvBrd * C57BL/6 		abnormal mitochondrial physiology J:192845
abnormal Z line morphology J:192845
centrally nucleated skeletal muscle fibers J:192845
decreased body weight J:192845
decreased grip strength J:192845
decreased muscle weight J:192845
decreased skeletal muscle fiber size J:192845
impaired autophagy J:192845
myopathy J:192845
oxidative stress J:192845
Mtm1tm1.1Jman/Y
involves: 129T1/Sv * C57BL/6 		abnormal motor capabilities/coordination/movement J:81791
abnormal muscle physiology J:81791
abnormal physical strength J:81791
abnormal skeletal muscle fiber morphology J:81791
cachexia J:81791
decreased gastrocnemius weight J:179741
decreased grip strength J:179741
decreased locomotor activity J:179741
decreased vertical activity J:179741
hindlimb paralysis J:81791
kyphosis J:81791
muscular atrophy J:81791
myopathy J:81791
perinatal lethality, incomplete penetrance J:81791
postnatal growth retardation J:81791
premature death J:81791, J:179741
progressive muscle weakness J:81791, J:179741
respiratory distress J:81791
skeletal muscle atrophy J:179741
Mtm1tm1.2Jman/Y
Tg(ACTA1-cre)79Jme/?
involves: 129T1/Sv * C57BL/6 * SJL 		centrally nucleated skeletal muscle fibers J:81791
myopathy J:81791
postnatal growth retardation J:81791
premature death J:81791
skeletal muscle fiber atrophy J:81791
Mtm1tm1.2Jman/Y
Tg(Eno2-cre)39Jme/?
involves: 129T1/Sv * C57BL/6 * SJL 		no abnormal phenotype detected J:81791
Mtm1tm1Itl/Y
B6.Cg-Mtm1tm1Itl 		abnormal cardiovascular system physiology J:179741
abnormal gait J:179741
abnormal gastrocnemius morphology J:179741
abnormal respiratory system physiology J:179741
abnormal vocalization J:179741
normal behavior/neurological phenotype J:179741
centrally nucleated skeletal muscle fibers J:179741
decreased body weight J:179741
decreased gastrocnemius weight J:179741
decreased quadriceps weight J:179741
decreased skeletal muscle fiber size J:179741
decreased skeletal muscle mass J:179741
decreased susceptibility to diet-induced obesity J:179741
decreased tibialis anterior weight J:179741
increased variability of skeletal muscle fiber size J:179741
normal liver/biliary system phenotype J:179741
premature death J:179741
progressive muscle weakness J:179741
reduced male fertility J:179741
normal reproductive system phenotype J:179741
respiratory distress J:179741
normal respiratory system phenotype J:179741
skeletal muscle atrophy J:179741
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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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory