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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.
- Source :
-
American journal of physiology. Renal physiology [Am J Physiol Renal Physiol] 2015 Jun 15; Vol. 308 (12), pp. F1335-42. Date of Electronic Publication: 2015 Apr 01. - Publication Year :
- 2015
-
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.<br /> (Copyright © 2015 the American Physiological Society.)
- Subjects :
- Animals
Hydronephrosis genetics
Kidney metabolism
Mice, Inbred C57BL
Organogenesis genetics
Transcription Factors metabolism
Gene Expression Regulation, Developmental genetics
Hydronephrosis etiology
Kidney abnormalities
Mutation genetics
Organogenesis physiology
Transcription Factors genetics
Urogenital Abnormalities metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 1522-1466
- Volume :
- 308
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- American journal of physiology. Renal physiology
- Publication Type :
- Academic Journal
- Accession number :
- 25834070
- Full Text :
- https://doi.org/10.1152/ajprenal.00410.2014