Symbol Name ID |
Dync1h1
dynein cytoplasmic 1 heavy chain 1 MGI:103147 |
* | Aspects of the system are reported to show a normal phenotype. |
! | Indicates phenotype varies with strain background. |
Darker colors indicate more annotations |
Human Phenotypes | Facial hypotonia |
Proximal lower limb amyotrophy |
Limb muscle weakness |
Proximal muscle weakness in lower limbs |
Spastic tetraplegia |
Hypotonia |
EMG: neuropathic changes |
Difficulty running |
Frequent falls |
Distal muscle weakness |
Type 2 muscle fiber predominance |
Spinal muscular atrophy |
Disease(s) Associated with DYNC1H1 | ||||||||||||
autosomal dominant intellectual developmental disorder 13 | ||||||||||||
Charcot-Marie-Tooth disease axonal type 2O | ||||||||||||
spinal muscular atrophy with lower extremity predominant 1 |
Mouse Phenotypes | muscle phenotype |
muscle spasm |
|
Availability | Mouse Genotype | ||
Dync1h1Cra1/Dync1h1+ | ! | ||
Dync1h1Loa/Dync1h1+ | ! | ||
Dync1h1tm1.1Sjki/Dync1h1+ | * |
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 07/05/2024 MGI 6.24 |
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