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Symbol
Name
ID
Cilk1
ciliogenesis associated kinase 1
MGI:1934157
Phenotype annotations related to nervous system
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Hydrocephalus
Ventriculomegaly
Focal polymicrogyria
Agenesis of corpus callosum
Absent septum pellucidum
Aplasia of the olfactory bulb
Aplasia/Hypoplasia of the cerebellum
Holoprosencephaly
Bilateral tonic-clonic seizure
Generalized non-motor (absence) seizure
Generalized myoclonic seizure
Febrile seizure (within the age range of 3 months to 6 years)
Disease(s) Associated with CILK1
endocrine-cerebro-osteodysplasia syndrome
juvenile myoclonic epilepsy 10

Mouse Phenotypes
nervous system phenotype
abnormal cervical flexure morphology
hydrocephaly
dilated brain ventricle
Availability Mouse Genotype
Cilk1tm1.1Zfu/Cilk1tm1.1Zfu
Cilk1tm1a(KOMP)Mbp/Cilk1tm1a(KOMP)Mbp *

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
04/30/2024
MGI 6.23
The Jackson Laboratory