Symbol
Name
ID

Chmp1a
charged multivesicular body protein 1A
MGI:1920159

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes

Secondary microcephaly

Dysphagia

Spasticity

Hypoplasia of the brainstem

Hypoplasia of the corpus callosum

Reduced cerebral white matter volume

Cerebellar hypoplasia

Gait ataxia

Chorea

Involuntary movements

Absent speech

Poor speech

Reduced social reciprocity

Intellectual disability

Hyperreflexia

Brisk reflexes

Developmental regression

Global developmental delay

Delayed ability to walk

Disease(s) Associated with CHMP1A

pontocerebellar hypoplasia type 8

Mouse Phenotypes

decreased cerebellar granule cell precursor proliferation

decreased neuronal precursor proliferation

abnormal forebrain development

thin cortical plate

abnormal hindbrain development

reduced cerebellar foliation

abnormal cerebellum external granule cell layer morphology

decreased brain weight

decreased brain size

abnormal choroid plexus morphology

abnormal basal ganglion morphology

decreased striatum size

abnormal cerebral cortex morphology

abnormal stratification in cerebral cortex

thin cerebral cortex

small olfactory bulb

olfactory bulb hypoplasia

telencephalon hypoplasia

abnormal Purkinje cell morphology

small cerebellum

cerebellum hypoplasia

decreased neuronal precursor cell number

Availability

Mouse Genotype

Chmp1a^Gt(XC472)Byg/Chmp1a^Gt(XC472)Byg

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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