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Symbol
Name
ID
Knl1
kinetochore scaffold 1
MGI:1923714
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Microcephaly
Primary microcephaly
Ventriculomegaly
Pachygyria
Hypoplasia of the frontal lobes
Agenesis of corpus callosum
Cerebellar vermis hypoplasia
Gray matter heterotopia
Delayed speech and language development
Aggressive behavior
Impulsivity
Intellectual disability
Intellectual disability, severe
Hyperreflexia
Bimanual synkinesia
Global developmental delay
Seizure
Disease(s) Associated with KNL1
primary autosomal recessive microcephaly
primary autosomal recessive microcephaly 4

Mouse Phenotypes
premature neuronal precursor differentiation
microgliosis
thin cortical plate
absent corpus callosum
telencephalon hypoplasia
decreased neuronal precursor cell number
decreased neuron number
Availability Mouse Genotype
Knl1tm1c(EUCOMM)Hmgu/Knl1tm1c(EUCOMM)Hmgu
Emx1tm1(cre)Krj/Emx1+  (conditional)
Knl1tm1c(EUCOMM)Hmgu/Knl1tm1c(EUCOMM)Hmgu
Tg(GFAP-cre)25Mes/0  (conditional)

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
04/16/2024
MGI 6.23
The Jackson Laboratory