katnb1 Phenotypes

Phenotypes

XB-GENEPAGE-998270

Gene Symbol: katnb1 Gene Name: katanin regulatory subunit B1

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (18 sources): Cognitive impairment, Global developmental delay, Gray matter heterotopia, Hyperreflexia, Hypoplasia of the corpus callosum, Limb hypertonia, Lissencephaly, Microcephaly, Microlissencephaly, Motor delay, Pachygyria, Partial agenesis of the corpus callosum, Polymicrogyria, Seizure, Simplified gyral pattern, Sloping forehead, Spasticity, Ventriculomegaly [+]
Mouse (30 sources): abnormal cell morphology, abnormal cortical ventricular zone morphology, abnormal embryo morphology, abnormal erythropoiesis, abnormal male meiosis, abnormal manchette morphology, abnormal meiotic spindle morphology, abnormal mitosis, abnormal mitotic spindle morphology, abnormal neuronal precursor proliferation, abnormal primary cilium morphology, abnormal sperm axoneme morphology, abnormal sperm flagellum morphology, abnormal spermatid morphology, aneuploidy, asthenozoospermia, binucleate, decreased brain size, decreased embryo size, decreased fibroblast proliferation, decreased neuronal precursor cell number, increased Sertoli cell phagocytosis, increased brain apoptosis, lethality throughout fetal growth and development, complete penetrance, loss of cortex neurons, pale liver, preweaning lethality, complete penetrance, reproductive system phenotype, small limb buds, thin cerebral cortex [+]
View all ortholog results at Monarch