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Symbol
Name
ID
Aspm
abnormal spindle microtubule assembly
MGI:1334448
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Microcephaly
Ventriculomegaly
Pachygyria
Simplified gyral pattern
Cortical dysplasia
Hypoplasia of the frontal lobes
Small cerebral cortex
Agenesis of corpus callosum
Hypoplasia of the corpus callosum
Cerebellar hypoplasia
Gray matter heterotopia
Delayed speech and language development
Attention deficit hyperactivity disorder
Intellectual disability
Intellectual disability, severe
Hyperreflexia
Global developmental delay
Motor delay
Seizure
Disease(s) Associated with ASPM
primary autosomal recessive microcephaly
primary autosomal recessive microcephaly 5

Mouse Phenotypes
abnormal brain development
decreased brain weight
decreased brain size
enlarged lateral ventricles
abnormal cerebral hemisphere morphology
abnormal neocortex morphology
abnormal barrel cortex morphology
thin cerebral cortex
abnormal astrocyte morphology
decreased neuronal precursor cell number
Availability Mouse Genotype
AspmGt(AA0137)Wtsi/AspmGt(AA0137)Wtsi
AspmGt(AJ0069)Wtsi/AspmGt(AJ0069)Wtsi
Aspmtm1(cre)Mrc/Aspmtm1(cre)Mrc
Aspmtm1.2Kxi/Aspmtm1.2Kxi

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
05/21/2024
MGI 6.23
The Jackson Laboratory