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Congenital anomalies of the kidney and urogenital tract (CAKUT) occur in approximately 0.5% of live births and represent the most frequent cause of end-stage renal disease in neonates and children. The genetic basis of CAKUT is not well defined. To understand more fully the genetic basis of one type of CAKUT, unilateral renal agenesis (URA), we are studying inbred ACI rats, which spontaneously exhibit URA and associated urogenital anomalies at an incidence of approximately 10%. URA is inherited as an incompletely dominant trait with incomplete penetrance in crosses between ACI and Brown Norway (BN) rats and a single responsible genetic locus, designated  Renag1 , was previously mapped to rat chromosome 14 (RNO14). The goals of this study were to fine map  Renag1 , identify the causal genetic variant responsible for URA, confirm that the  Renag1  variant is the sole determinant of URA in the ACI rat, and define the embryologic basis of URA in this rat model. Data presented herein localize  Renag1  to a 379 kilobase (kb) interval that contains a single protein coding gene,  Kit  (v-kit Hardy-Zukerman 4 feline sarcoma viral oncogene homolog); identify an endogenous retrovirus-derived long terminal repeat located within  Kit  intron 1 as the probable causal variant; demonstrate aberrant development of the nephric duct in the anticipated number of ACI rat embryos; and demonstrate expression of  Kit  and Kit ligand ( Kitlg ) in the nephric duct. Congenic rats that harbor ACI alleles at  Renag1  on the BN genetic background exhibit the same spectrum of urogenital anomalies as ACI rats, indicating that  Renag1  is necessary and sufficient to elicit URA and associated urogenital anomalies. These data reveal the first genetic link between  Kit  and URA and illustrate the value of the ACI rat as a model for defining the mechanisms and cell types in which Kit functions during urogenital development.

Genetic Etiology of Renal Agenesis: Fine Mapping of Renag1 and Identification of Kit as the Candidate Functional Gene