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Symbol Name ID |
Abhd5
abhydrolase domain containing 5 MGI:1914719 |
| Darker colors indicate more annotations |
| Human Phenotypes | Shoulder girdle muscle weakness |
Increased intramyocellular lipid droplets |
Flexion contracture |
Multiple joint contractures |
EMG: myopathic abnormalities |
Difficulty walking |
Muscle weakness |
Progressive proximal muscle weakness |
Myopathy |
| Disease(s) Associated with ABHD5 | |||||||||
| autosomal recessive congenital ichthyosis 1 | |||||||||
| Chanarin-Dorfman syndrome |
| Mouse Phenotypes | increased cardiac muscle triglyceride level |
myocardium steatosis |
increased cardiac muscle cell glucose uptake |
decreased ventricle muscle contractility |
increased skeletal muscle triglyceride level |
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| Availability | Mouse Genotype | |||||
| Abhd5tm1Rze/Abhd5tm1Rze Tg(Ckmm-cre)5Khn/0 (conditional) |
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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 04/23/2024 MGI 6.23 |
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