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 |
Aggressive behavior |
Hyperactivity |
Delayed speech and language development |
Diminished ability to concentrate |
Autistic behavior |
Recurrent hand flapping |
Self-mutilation |
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 |
|
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 08/21/2024 MGI 6.24 |
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