| Monarch Ortholog Phenotypes
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Human (21 sources):
Abnormal cortical bone morphology,
Agenesis of corpus callosum,
Global developmental delay,
Gray matter heterotopia,
Growth delay,
Hyperreflexia,
Hypoplasia of the frontal lobes,
Increased rate of premature chromosome condensation,
Intellectual disability,
Intellectual disability, severe,
Microcephaly,
Pachygyria,
Seizure,
Short stature,
Sloping forehead,
Small cerebral cortex,
Thin upper lip vermilion,
Unilateral renal agenesis,
Upslanted palpebral fissure,
Ventriculomegaly,
Vesicoureteral reflux
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Mouse (43 sources):
abnormal brain development,
abnormal chromosome morphology,
abnormal corneal stroma morphology,
abnormal cortical intermediate zone morphology,
abnormal eye pigmentation,
abnormal fertility/fecundity,
abnormal immune tolerance,
abnormal male germ cell apoptosis,
abnormal male meiosis,
abnormal mitosis,
abnormal mitotic spindle morphology,
abnormal neocortex morphology,
abnormal neuron differentiation,
abnormal neuronal precursor proliferation,
abnormal seminiferous tubule morphology,
abnormal spermatid morphology,
absent ovarian follicles,
absent pinna reflex,
arrest of male meiosis,
chromosomal instability,
decreased bone mineral content,
decreased bone trabecula number,
decreased brain size,
decreased lean body mass,
decreased male germ cell number,
decreased ovary weight,
decreased survivor rate,
decreased trabecular bone mass,
decreased trabecular bone volume,
disorganized retina layers,
immune system phenotype,
increased cellular sensitivity to gamma-irradiation,
increased mortality induced by gamma-irradiation,
increased neuron apoptosis,
increased susceptibility to autoimmune diabetes,
increased thermal nociceptive threshold,
induced chromosome breakage,
ovary atrophy,
perinatal lethality, incomplete penetrance,
premature death,
reproductive system phenotype,
thin cerebral cortex,
thin cortical plate
[+]
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View all ortholog results at Monarch
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These phenotypes are associated with this gene with a has phenotype relation via Monarch.