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Research Article Free access | 10.1172/JCI2414

Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.

P A Jänne, S F Suchy, D Bernard, M MacDonald, J Crawley, A Grinberg, A Wynshaw-Boris, H Westphal, and R L Nussbaum

Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19102, USA.

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Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19102, USA.

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Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19102, USA.

Find articles by Bernard, D. in: JCI | PubMed | Google Scholar

Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19102, USA.

Find articles by MacDonald, M. in: JCI | PubMed | Google Scholar

Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19102, USA.

Find articles by Crawley, J. in: JCI | PubMed | Google Scholar

Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19102, USA.

Find articles by Grinberg, A. in: JCI | PubMed | Google Scholar

Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19102, USA.

Find articles by Wynshaw-Boris, A. in: JCI | PubMed | Google Scholar

Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19102, USA.

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Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19102, USA.

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Published May 15, 1998 - More info

Published in Volume 101, Issue 10 on May 15, 1998
J Clin Invest. 1998;101(10):2042–2053. https://doi.org/10.1172/JCI2414.
© 1998 The American Society for Clinical Investigation
Published May 15, 1998 - Version history
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Abstract

The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked human genetic disorder characterized by mental retardation, congenital cataracts, and renal tubular dysfunction. The Lowe syndrome gene, OCRL1, encodes a phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi complex. The pathogenesis of Lowe syndrome due to deficiency of a phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi complex is unknown. We have used targeted disruption in embryonic stem cells to make mice deficient in Ocrl1, the mouse homologue for OCRL1, as an animal model for the disease. Surprisingly, mice deficient in Ocrl1 do not develop the congenital cataracts, renal Fanconi syndrome, or neurological abnormalities seen in the human disorder. We hypothesized that Ocrl1 deficiency is complemented in mice by inositol polyphosphate 5-phosphatase (Inpp5b), an autosomal gene that encodes a phosphatidylinositol bisphosphate 5-phosphatase highly homologous to Ocrl1. We created mice deficient in Inpp5b; the mice were viable and fertile without phenotype except for testicular degeneration in males beginning after sexual maturation. We crossed mice deficient in Ocrl1 to mice deficient in Inpp5b. No liveborn mice or embryos lacking both enzymes were found, demonstrating that Ocrl1 and Inpp5b have overlapping functions in mice and suggesting that the lack of phenotype in Ocrl1-deficient mice may be due to compensating Inpp5b function.

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