renal/urinary system
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• urinary Ca2+/Cr ratios are decreased unlike in human patients with homozygous loss of ATP6V1B1 where calcium levels are increased
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• in mice on a standard chow diet (pH of 7.2 compared to 6.1 in wild-type controls)
• after acid loading urine is markedly more alkaline than in similarly treated wild-type controls
• furosemide treatment fails to increase urine acidity
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• the rate of intracellular pH recovery in intercalcated cells is markedly reduced after cellular acidification but is not affected by concanamycin treatment
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homeostasis/metabolism
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• decrease in venous plasma bicarbonate level following acid loading
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• urinary Ca2+/Cr ratios are decreased unlike in human patients with homozygous loss of ATP6V1B1 where calcium levels are increased
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• following acid loading (1.5% NH4Cl/1% sucrose in water), acidosis is more severe in mutants compared to wild-type mice
• however, unlike in human patients with homozygous loss of ATP6V1B1 systemic acidosis is not detected in mice on a standard chow diet
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• in mice on a standard chow diet (pH of 7.2 compared to 6.1 in wild-type controls)
• after acid loading urine is markedly more alkaline than in similarly treated wild-type controls
• furosemide treatment fails to increase urine acidity
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hearing/vestibular/ear
| N |
• at 5-8 months of age, homozygotes exhibit a normal Preyer's reflex and do not display circling/waltzing behaviors or other signs of vestibular dysfunction
• inner ear histology, auditory brainstem responses, and endocochlear potentials are unaffected, indicating normal inner ear function
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skeleton
| N |
• bone density is normal
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