|
Symbol Name ID |
Car8
carbonic anhydrase 8 MGI:88253 |
| 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 CA8 | ||||||||||||||||||||||||||||||||||||
| cerebellar ataxia, mental retardation and dysequlibrium syndrome |
| Mouse Phenotypes | abnormal cerebellum morphology |
abnormal cerebellar molecular layer |
abnormal innervation |
abnormal neuron physiology |
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| Availability | Mouse Genotype | ||||
| Car8wdl/Car8wdl | |||||
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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