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Symbol Name ID |
Crppa
CDP-L-ribitol pyrophosphorylase A MGI:1923097 |
| Darker colors indicate more annotations |
| Human Phenotypes | Dandy-Walker malformation |
Encephalocele |
Optic nerve hypoplasia |
Hypoplasia of the brainstem |
Hydrocephalus |
Ventriculomegaly |
Lissencephaly |
Agyria |
Pachygyria |
Type II lissencephaly |
Polymicrogyria |
Partial agenesis of the corpus callosum |
Hypoplasia of the corpus callosum |
Cerebellar hypoplasia |
Gray matter heterotopia |
Subcortical heterotopia |
Abnormality of mental function |
Intellectual disability, profound |
Areflexia |
Loss of ambulation |
| Disease(s) Associated with CRPPA | ||||||||||||||||||||
| autosomal recessive limb-girdle muscular dystrophy type 2U | ||||||||||||||||||||
| congenital muscular dystrophy-dystroglycanopathy A7 |
| Mouse Phenotypes | abnormal axon fasciculation |
abnormal axon guidance |
radial glial endfoot detachment |
abnormal nervous system tract morphology |
abnormal spinal cord ventral commissure morphology |
ectopic neuron |
abnormal spinal cord dorsal column morphology |
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| Availability | Mouse Genotype | |||||||
| Crppam1Ddg/Crppam1Ddg | ||||||||
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 04/23/2024 MGI 6.23 |
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