bsnd Phenotypes

Phenotypes

XB-GENEPAGE-948282

Gene Symbol: bsnd Gene Name: barttin CLCNK-type chloride channel accessory beta subunit

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (27 sources): Decreased glomerular filtration rate, Edema, Failure to thrive, Fetal polyuria, Generalized hypotonia, Global glomerulosclerosis, Hydrops fetalis, Hyperaldosteronism, Hyperchloriduria, Hypernatriuria, Hypochloremia, Hypokalemia, Hypokalemic hypochloremic metabolic alkalosis, Hyponatremia, Hyporeflexia, Hypotonia, Increased urinary potassium, Intellectual disability, Motor delay, Polyhydramnios, Polyuria, Premature birth, Reduced renal corticomedullary differentiation, Renal insufficiency, Renal salt wasting, Sensorineural hearing impairment, Tubulointerstitial fibrosis [+]
Mouse (17 sources): abnormal stria vascularis morphology, abnormal vestibuloocular dark reflex, absent distortion product otoacoustic emissions, cochlear outer hair cell degeneration, collapsed Reissner membrane, decreased body size, decreased endocochlear potential, decreased physiological sensitivity to xenobiotic, decreased systemic arterial blood pressure, decreased urine osmolality, decreased urine sodium level, homeostasis/metabolism phenotype, increased circulating bicarbonate level, increased or absent threshold for auditory brainstem response, postnatal lethality, complete penetrance, stria vascularis degeneration, thin stria vascularis [+]
View all ortholog results at Monarch