|
Symbol Name ID |
Pycr2
pyrroline-5-carboxylate reductase family, member 2 MGI:1277956 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Secondary microcephaly |
Spasticity |
CNS hypomyelination |
Leukodystrophy |
Hypoplasia of the brainstem |
Cerebral cortical atrophy |
Hypoplasia of the corpus callosum |
Reduced cerebral white matter volume |
Cerebral atrophy |
Babinski sign |
Absent speech |
Hyperreflexia |
Inability to walk |
Hyperkinetic movements |
Global developmental delay |
Seizure |
| Disease(s) Associated with PYCR2 | ||||||||||||||||
| hypomyelinating leukodystrophy 10 |
| Mouse Phenotypes | nervous system phenotype |
abnormal oligodendrocyte apoptosis |
increased neuron apoptosis |
impaired neuron differentiation |
decreased corpus callosum size |
hippocampal neuron degeneration |
abnormal oligodendrocyte morphology |
abnormal neuron morphology |
abnormal axon morphology |
increased myelin sheath thickness |
neuron degeneration |
axonal dystrophy |
axonal spheroids |
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| Availability | Mouse Genotype | |||||||||||||
| Pycr2m1J/Pycr2m1J Pycr2m1J/Pycr2m1J |
* | |||||||||||||
| Pycr2tm1.1Brre/Pycr2tm1.1Brre | ||||||||||||||
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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