Symbol Name ID |
Knl1
kinetochore scaffold 1 MGI:1923714 |
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 |
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Availability | Mouse Genotype | |||||||
Knl1tm1c(EUCOMM)Hmgu/Knl1tm1c(EUCOMM)Hmgu Emx1tm1(cre)Krj/Emx1+ (conditional) |
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Knl1tm1c(EUCOMM)Hmgu/Knl1tm1c(EUCOMM)Hmgu Tg(GFAP-cre)25Mes/0 (conditional) |
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 |
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