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Symbol
Name
ID
Ttn
titin
MGI:98864
Phenotype annotations related to homeostasis/metabolism
Darker colors indicate more annotations
Human Phenotypes
Mitochondrial depletion
Elevated circulating creatine kinase concentration
Mildly elevated creatine kinase
Increased muscle lipid content
Disease(s) Associated with TTN
autosomal recessive limb-girdle muscular dystrophy type 2J
congenital myopathy 5
myofibrillar myopathy 9
tibial muscular dystrophy

Mouse Phenotypes
impaired exercise endurance
pericardial edema
pericardial effusion
hypoxia
abnormal response/metabolism to endogenous compounds
Availability Mouse Genotype
Ttnshru/Ttnshru
Ttntm1.1Her/Ttntm1.1Her
Ttntm1.1Hgra/Ttntm1.1Hgra
Ttntm1Brge/Ttntm1Brge
Ttntm2.1Hgra/Ttntm2.1Hgra
Ttntm1Brge/Ttn+

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
04/16/2024
MGI 6.23
The Jackson Laboratory