chm Phenotypes

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Phenotypes

XB-GENEPAGE-956388

Gene Symbol: chm Gene Name: choroideremia (Rab escort protein 1)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (12 sources): Abnormal electroretinogram, Abnormality of retinal pigmentation, Abnormality of the orbital region, Abnormality of vision, Chorioretinal atrophy, Chorioretinal degeneration, Choroideremia, Constriction of peripheral visual field, Myopia, Nyctalopia, Progressive visual loss, Visual impairment [+]
Mouse (26 sources): abnormal photoreceptor outer segment morphology, abnormal placenta labyrinth morphology, abnormal response/metabolism to endogenous compounds, abnormal retina pigment epithelium morphology, abnormal rod electrophysiology, abnormal spongiotrophoblast layer morphology, abnormal trophoblast layer morphology, abnormal visceral yolk sac blood island morphology, abnormal visceral yolk sac morphology, abnormal vitelline vascular remodeling, absent placental labyrinth, decreased angiogenesis, decreased retina photoreceptor cell number, embryonic growth retardation, embryonic lethality during organogenesis, complete penetrance, failure of chorioallantoic fusion, homeostasis/metabolism phenotype, no abnormal phenotype detected, prenatal lethality, complete penetrance, prenatal lethality, incomplete penetrance, retina photoreceptor degeneration, short photoreceptor outer segment, small ectoplacental cone, thin placenta labyrinth, thin retina outer nuclear layer, vision/eye phenotype [+]
View all ortholog results at Monarch