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Symbol
Name
ID
Mcph1
microcephaly, primary autosomal recessive 1
MGI:2443308
Phenotype annotations related to nervous system
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
Availability Mouse Genotype
Mcph1tm1.1Zqw/Mcph1tm1.1Zqw

Contributing Projects:
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
The Jackson Laboratory