title: 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.
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.
authors.affiliation: GSF-National Research Center for Environment and Health, Institute of Mammalian Genetics, Oberschleissheim, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Favor
authors.forename: R
authors.initials: R
authors.lastname: Sandulache
authors.forename: A
authors.initials: A
authors.lastname: Neuhäuser-Klaus
authors.forename: W
authors.initials: W
authors.lastname: Pretsch
authors.forename: B
authors.initials: B
authors.lastname: Chatterjee
authors.forename: E
authors.initials: E
authors.lastname: Senft
authors.forename: W
authors.initials: W
authors.lastname: Wurst
authors.forename: V
authors.initials: V
authors.lastname: Blanquet
authors.forename: P
authors.initials: P
authors.lastname: Grimes
authors.forename: R
authors.initials: R
authors.lastname: Spörle
authors.forename: K
authors.initials: K
authors.lastname: Schughart
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000818:Animals; D001483:Base Sequence; D001921:Brain / Q000002:abnormalities; D003103:Coloboma / Q000235:genetics*; D003433:Crosses, Genetic; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000235:genetics*; D004423:Ear / Q000002:abnormalities; D005314:Embryonic and Fetal Development; D005124:Eye Abnormalities / Q000235:genetics; D016368:Frameshift Mutation; D006720:Homozygote; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D051379:Mice; D008815:Mice, Inbred Strains; D008969:Molecular Sequence Data; D051762:PAX2 Transcription Factor; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011995:Recombination, Genetic; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D017931:DNA Primers; D004268:DNA-Binding Proteins; D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human; C497319:Pax2 protein, mouse; D014157:Transcription Factors