PMID: 8943028Nov 26, 1996Paper

The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney

Proceedings of the National Academy of Sciences of the United States of America
J FavorK Schughart

Abstract

We describe a new mouse frameshift mutation (Pax2(1Neu)) with a 1-bp insertion in the Pax2 gene. This mutation is identical to a previously described mutation in a human family with renal-coloboma syndrome [Sanyanusin, P., McNoe, L. A., Sullivan, M. J., Weaver, R. G. & Eccles, M. R. (1995) Hum. Mol. Genet. 4, 2183-2184]. Heterozygous mutant mice exhibit defects in the kidney, the optic nerve, and retinal layer of the eye, and in homozygous mutant embryos, development of the optic nerve, metanephric kidney, and ventral regions of the inner ear is severely affected. In addition, we observe a deletion of the cerebellum and the posterior mesencephalon in homozygous mutant embryos demonstrating that, in contrast to mutations in Pax5, which is also expressed early in the mid-hindbrain region, loss of Pax2 gene function alone results in the early loss of the mid-hindbrain region. The mid-hindbrain phenotype is similar to Wnt1 and En1 mutant phenotypes, suggesting the conservation of gene regulatory networks between vertebrates and Drosophila.

References

Sep 1, 1992·Mechanisms of Development·A W PüschelG R Dressler
Mar 1, 1988·American Journal of Medical Genetics·R G WeaverM Ball
Jan 22, 1986·The Journal of Comparative Neurology·G M Horsburgh, A J Sefton
Dec 1, 1984·Genetical Research·J D WestM F Lyon
Jun 1, 1994·Current Opinion in Genetics & Development·T Strachan, A P Read
Nov 1, 1995·Human Molecular Genetics·P SanyanusinM R Eccles
Jan 1, 1996·Trends in Genetics : TIG·A L Joyner
Jan 1, 1995·Annual Review of Genetics·K P Steel

❮ Previous
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Citations

Oct 29, 1998·Human Mutation·M T WolfG Wildhardt
Mar 10, 2001·American Journal of Medical Genetics·B FordJ M Friedman
Jun 27, 2000·American Journal of Medical Genetics·A L TellierT Attié-Bitach
Sep 7, 2000·Developmental Dynamics : an Official Publication of the American Association of Anatomists·J J SwiergielG W Conrad
Sep 23, 1997·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·E DahlR Balling
Mar 29, 2002·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Tanya T WhitfieldBryan Phillips
Oct 17, 2002·Journal of Neurobiology·Tanya T Whitfield
Oct 17, 2002·Journal of Neurobiology·Selina Noramly, Robert M Grainger
Dec 18, 2001·Prenatal Diagnosis·C A Peters
Aug 1, 1997·Mammalian Genome : Official Journal of the International Mammalian Genome Society·T GüntherK Schughart
Jan 12, 2007·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Luisa MurerLina Artifoni
Mar 16, 2007·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Shao-Ling ZhangJulie R Ingelfinger
Jun 2, 2007·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Hae Il CheongYong Choi
Mar 23, 2011·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Inga J MurawskiIndra R Gupta
Dec 6, 2011·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Lyndsay A Harshman, Patrick D Brophy
Feb 22, 2012·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Hiromi OhtsuboKazumoto Iijima
Jun 5, 2012·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Paraskevas IatropoulosMarina Noris
Nov 20, 2003·Neuroscience and Biobehavioral Reviews·Davide ViggianoAdolfo G Sadile
Mar 5, 2004·Survey of Ophthalmology·Ian M MacDonaldMaria A Musarella
Aug 6, 2002·Survey of Ophthalmology·Sascha FauserFrank Schüttauf
Oct 23, 2001·Archives of Ophthalmology·P I GusR Giugliani
Aug 14, 1999·Brain Research. Developmental Brain Research·T OkafujiH Nakamura
Nov 2, 2001·Progress in Neurobiology·H Nakamura
May 29, 2002·Brain Research Bulletin·E Arenas
Jun 23, 2009·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·R Salomon
Sep 12, 2000·Current Opinion in Genetics & Development·A Schedl, N D Hastie
Feb 17, 2001·Current Opinion in Neurobiology·H Wada, N Satoh
Feb 17, 2001·Current Opinion in Neurobiology·M Rhinn, M Brand
Mar 11, 1999·Current Opinion in Neurobiology·M Hynes, A Rosenthal
Feb 5, 1999·Progress in Retinal and Eye Research·J Graw
Aug 31, 1999·Clinical Genetics·M R Eccles, L A Schimmenti
Feb 11, 2000·Clinical Genetics·T D Piscione, N D Rosenblum
Jul 4, 2001·Nature Reviews. Neuroscience·V Y Wang, H Y Zoghbi
Jun 10, 2011·European Journal of Human Genetics : EJHG·Lisa A Schimmenti
Jan 11, 2000·Eye·J Graw
Apr 25, 2006·Nature Reviews. Cancer·Yongfeng Shang
Feb 13, 2001·Kidney International·R SalomonM Broyer
Feb 19, 2002·Kidney International·Iekuni IchikawaYoichi Miyazaki
Oct 15, 2010·Human Molecular Genetics·Sally H CrossIan J Jackson

❮ Previous
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