DESCRIPTION:

QTL Associated with Renal agenesis. On Chromosome 14 with a LOD score= , p-value =. From a(n) of

LABEL:

QTL-Renag1-Rat-Chr 14

SCORE TYPE:

Binary

DATE ADDED:

2015-06-10

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

Shull JD, Lachel CM, Strecker TE, Spady TJ, Tochacek M, Pennington KL, Murrin CR, Meza JL, Schaffer BS, Flood LA, Gould KA

TITLE:

Genetic bases of renal agenesis in the ACI rat: mapping of Renag1 to chromosome 14.

JOURNAL:

Mammalian genome : official journal of the International Mammalian Genome Society None None, Vol 17, pp. 751-9

ABSTRACT:

1. Mamm Genome. 2006 Jul;17(7):751-9. Epub 2006 Jul 14. Genetic bases of renal agenesis in the ACI rat: mapping of Renag1 to chromosome 14. Shull JD(1), Lachel CM, Strecker TE, Spady TJ, Tochacek M, Pennington KL, Murrin CR, Meza JL, Schaffer BS, Flood LA, Gould KA. Author information: (1)Department of Genetics, Cell Biology and Anatomy, University of Nebraska Medical Center, Omaha, 68198, USA. jshull@unmc.edu Unilateral renal agenesis (URA) is a common developmental defect in humans, occurring at a frequency of approximately 1 in 500-1,000 births. Several genetic syndromes include bilateral or unilateral renal agenesis as an associated phenotype. However, URA frequently occurs in individuals not afflicted by these syndromes and is often asymptomatic. Although it is clear that genetic factors contribute to the etiology of URA, the genetic bases of URA are poorly defined at this time. ACI rats, both males and females, exhibit URA at an incidence of 5%-15%. In this article we characterize the incidence of URA in female and male F(1), F(2), and backcross (BC) progeny from reciprocal genetic crosses between the ACI strain and the unaffected Brown Norway (BN) strain. Through interval mapping analyses of 353 phenotypically defined female F(2) progeny, we mapped to rat Chromosome 14 (RNO14) a genetic locus, designated Renag1 (Renal agenesis 1), that serves as the major determinant of URA in these crosses. Further genotypic analyses of URA-affected female and male F(2) and BC progeny localized Renag1 to a 14.4-Mb interval on RNO14 bounded by markers D14Rat50 and D14Rat12. The data from these genetic studies suggest that the ACI allele of Renag1 acts in an incompletely dominant and incompletely penetrant manner to confer URA. PMID: 16845468 [PubMed - indexed for MEDLINE] PUBMED: 16845468
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