|
Symbol Name ID |
Herc2
HECT and RLD domain containing E3 ubiquitin protein ligase 2 MGI:103234 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Echolalia |
Delayed speech and language development |
Autistic behavior |
Aggressive behavior |
Hyperactivity |
Recurrent hand flapping |
Self-mutilation |
Diminished ability to concentrate |
Intellectual disability |
Unsteady gait |
Global developmental delay |
Delayed ability to walk |
Seizure |
Febrile seizure (within the age range of 3 months to 6 years) |
| Disease(s) Associated with HERC2 | ||||||||||||||
| autosomal recessive intellectual developmental disorder 38 |
| Mouse Phenotypes | nervous system phenotype |
Purkinje cell degeneration |
Purkinje cell axonal dystrophy |
abnormal Purkinje cell dendrite morphology |
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| Availability | Mouse Genotype | ||||
| Herc2Gt(AR0530)Wtsi/Herc2+ | * | ||||
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 05/14/2024 MGI 6.23 |
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