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Symbol Name ID |
Atp8a2
ATPase, aminophospholipid transporter-like, class I, type 8A, member 2 MGI:1354710 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Hypoplasia of the brainstem |
Pachygyria |
Simplified gyral pattern |
Cerebral cortical atrophy |
Hypoplasia of the corpus callosum |
Corpus callosum atrophy |
Aplasia of the inferior half of the cerebellar vermis |
Inferior cerebellar vermis hypoplasia |
Atrophy of the dentate nucleus |
Cerebellar hypoplasia |
Cerebellar atrophy |
Global brain atrophy |
Ataxia |
Cerebellar ataxia associated with quadrupedal gait |
Dysdiadochokinesis |
Dysmetria |
Gait ataxia |
Truncal ataxia |
Slurred speech |
Tremor |
Intention tremor |
Delayed speech and language development |
Dysarthria |
Poor speech |
Intellectual disability |
Intellectual disability, mild |
Intellectual disability, progressive |
Intellectual disability, severe |
Hyperreflexia |
Lower limb hyperreflexia |
Hyporeflexia |
Broad-based gait |
Inability to walk |
Global developmental delay |
Delayed ability to walk |
Seizure |
| Disease(s) Associated with ATP8A2 | ||||||||||||||||||||||||||||||||||||
| cerebellar ataxia, mental retardation and dysequlibrium syndrome |
| Mouse Phenotypes | nervous system phenotype |
brain vacuoles |
motor neuron degeneration |
decreased retina photoreceptor cell number |
short photoreceptor outer segment |
short retina cone cell outer segment |
disorganized photoreceptor outer segment |
retina photoreceptor degeneration |
chromatolysis |
cochlear ganglion degeneration |
optic nerve degeneration |
abnormal spinal cord white matter morphology |
axonal dystrophy |
abnormal myelination |
demyelination |
|
| Availability | Mouse Genotype | |||||||||||||||
| Atp8a2agil-2J/Atp8a2agil-2J | ||||||||||||||||
| Atp8a2agil-3J/Atp8a2agil-3J | ||||||||||||||||
| Atp8a2agil/Atp8a2agil | ||||||||||||||||
| Atp8a2tm1Rsmy/Atp8a2tm1Rsmy | ||||||||||||||||
| Atp8a2wl-3J/Atp8a2wl-3J | ||||||||||||||||
| Atp8a2wl-vmd/Atp8a2wl-vmd | ||||||||||||||||
| Atp8a2wl/Atp8a2wl | * | |||||||||||||||
| Atp8a2wl/Atp8a2+ | ||||||||||||||||
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 04/30/2024 MGI 6.23 |
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