title: Kidney adysplasia and variable hydronephrosis, a new mutation affecting the odd-skipped related 1 gene in the mouse, causes variable defects in kidney development and hydronephrosis.
abstract: Many genes, including odd-skipped related 1 (Osr1), are involved in regulation of mammalian kidney development. We describe here a new recessive mutation (kidney adysplasia and variable hydronephrosis, kavh) in the mouse that leads to downregulation of Osr1 transcript, causing several kidney defects: agenesis, hypoplasia, and hydronephrosis with variable age of onset. The mutation is closely associated with a reciprocal translocation, T(12;17)4Rk, whose Chromosome 12 breakpoint is upstream from Osr1. The kavh/kavh mutant provides a model to study kidney development and test therapies for hydronephrosis.
authors.affiliation: The Jackson Laboratory, Bar Harbor, Maine.
authors.forename: Muriel T
authors.initials: MT
authors.lastname: Davisson
authors.affiliation: The Jackson Laboratory, Bar Harbor, Maine.
authors.forename: Susan A
authors.initials: SA
authors.lastname: Cook
authors.affiliation: The Jackson Laboratory, Bar Harbor, Maine.
authors.forename: Ellen C
authors.initials: EC
authors.lastname: Akeson
authors.affiliation: The Jackson Laboratory, Bar Harbor, Maine.
authors.forename: Don
authors.initials: D
authors.lastname: Liu
authors.affiliation: The Jackson Laboratory, Bar Harbor, Maine.
authors.forename: Caleb
authors.initials: C
authors.lastname: Heffner
authors.affiliation: The Jackson Laboratory, Bar Harbor, Maine.
authors.forename: Polyxeni
authors.initials: P
authors.lastname: Gudis
authors.affiliation: The Jackson Laboratory, Bar Harbor, Maine.
authors.forename: Heather
authors.initials: H
authors.lastname: Fairfield
authors.affiliation: The Jackson Laboratory, Bar Harbor, Maine steve.murray@jax.org.
authors.forename: Stephen A
authors.initials: SA
authors.lastname: Murray
mesh_terms: D000818:Animals; D018507:Gene Expression Regulation, Developmental / Q000235:genetics*; D006869:Hydronephrosis / Q000209:etiology* / Q000235:genetics; D007668:Kidney / Q000002:abnormalities* / Q000378:metabolism; D008810:Mice, Inbred C57BL; D009154:Mutation / Q000235:genetics*; D038081:Organogenesis / Q000235:genetics / Q000502:physiology*; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism; D014564:Urogenital Abnormalities / Q000378:metabolism*
chemical_list: C121641:Osr1 protein, mouse; D014157:Transcription Factors
keywords: hydronephrosis; kidney development; mouse model; osr1; spontaneous mutant
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