ArticleProceedings of the National Academy of Sciences of the United States of America2012
Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 65 citations in OpenAlex.
- Neonatal Onset Distal Renal Tubular Acidosis: Description of Two Novel Variants on theJournal of pediatric genetics · 2024Article
- Article
- The pathophysiology of distal renal tubular acidosis.Nature reviews. Nephrology · 2023Review
- Mechanistic insights into the primary and secondary alterations of renal ion and water transport in the distal nephron.Journal of internal medicine · 2023Review
- Cystic Fibrosis and the Cells of the Airway Epithelium: What Are Ionocytes and What Do They Do?Annual review of pathology · 2022Review
- Brain dysfunction in tubular and tubulointerstitial kidney diseases.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2021Review
- The (pro)renin receptor (ATP6ap2) facilitates receptor-mediated endocytosis and lysosomal function in the renal proximal tubule.Pflugers Archiv : European journal of physiology · 2021Article
- Loss of vacuolar-type H+-ATPase induces caspase-independent necrosis-like death of hair cells in zebrafish neuromasts.Disease models & mechanisms · 2021Article
- Adaptive cell invasion maintains lateral line organ homeostasis in response to environmental changes.Developmental cell · 2021Article
- The HAmerican journal of physiology. Cell physiology · 2021Review
- Article
- Screening and function discussion of a hereditary renal tubular acidosis family pathogenic gene.Cell death & disease · 2020Article
- Distal renal tubular acidosis and severe hypokalemia: a case report and review of the literature.Journal of medical case reports · 2019Review
- Exocyst Complex Member EXOC5 Is Required for Survival of Hair Cells and Spiral Ganglion Neurons and Maintenance of Hearing.Molecular neurobiology · 2018Article
- Targeted deletion of the Ncoa7 gene results in incomplete distal renal tubular acidosis in mice.American journal of physiology. Renal physiology · 2018Article
- Renal Tubular Acidosis: HAdvances in chronic kidney disease · 2018Review
- Mouse models of SLC4-linked disorders of HCOAmerican journal of physiology. Cell physiology · 2018Review
- The curious case of vacuolar ATPase: regulation of signaling pathways.Molecular cancer · 2018Review
- Extracellular Adenosine Stimulates Vacuolar ATPase-Dependent Proton Secretion in Medullary Intercalated Cells.Journal of the American Society of Nephrology : JASN · 2018Article
- The ammonia transporter RhCG modulates urinary acidification by interacting with the vacuolar proton-ATPases in renal intercalated cells.Kidney international · 2018Article
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6 authors at 2 institutions in 1 country.
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Abstract
Autosomal recessive distal renal tubular acidosis (dRTA) is a severe disorder of acid-base homeostasis, often accompanied by sensorineural deafness. We and others have previously shown that mutations in the tissue-restricted a4 and B1 subunits of the H(+)-ATPase underlie this syndrome. Here, we describe an Atp6v0a4 knockout mouse, which lacks the a4 subunit. Using β-galactosidase as a reporter for the null gene, developmental a4 expression was detected in developing bone, nose, eye, and skin, in addition to that expected in kidney and inner ear. By the time of weaning, Atp6v0a4(-/-) mice demonstrated severe metabolic acidosis, hypokalemia, and early nephrocalcinosis. Null mice were hypocitraturic, but hypercalciuria was absent. They were severely hearing-impaired, as shown by elevated auditory brainstem response thresholds and absent endocochlear potential. They died rapidly unless alkalinized. If they survived weaning with alkali supplementation, treatment could later be withdrawn, but -/- animals remained acidotic with alkaline urine. They also had an impaired sense of smell. Heterozygous animals were biochemically normal until acid-challenged, when they became more acidotic than +/+ animals. This mouse model recapitulates the loss of H(+)-ATPase function seen in human disease and can provide additional insights into dRTA and the physiology of the a4 subunit.
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