Symbol Name ID |
Mcph1
microcephaly, primary autosomal recessive 1 MGI:2443308 |
Darker colors indicate more annotations |
Human Phenotypes | Microcephaly |
Primary microcephaly |
Ventriculomegaly |
Pachygyria |
Hypoplasia of the frontal lobes |
Small cerebral cortex |
Agenesis of corpus callosum |
Gray matter heterotopia |
Intellectual disability |
Intellectual disability, severe |
Hyperreflexia |
Global developmental delay |
Seizure |
Disease(s) Associated with MCPH1 | |||||||||||||
primary autosomal recessive microcephaly | |||||||||||||
primary autosomal recessive microcephaly 1 |
Mouse Phenotypes | increased neuron apoptosis |
abnormal neuron differentiation |
abnormal neuronal precursor proliferation |
abnormal brain development |
abnormal cortical intermediate zone morphology |
thin cortical plate |
decreased brain size |
abnormal neocortex morphology |
thin cerebral cortex |
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Availability | Mouse Genotype | |||||||||
Mcph1tm1.1Zqw/Mcph1tm1.1Zqw |
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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