Congenital Progressive Hydronephrosis in Mice: A New Recessive Mutation

Horton, Charles E.; Davisson, Muriel T.; Jacobs, Jerome B.; Bernstein, Guy T.; Retik, Alan B.; Mandell, James

doi:10.1016/s0022-5347(17)42033-7

Cited by 26 publications

(18 citation statements)

References 10 publications

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“…A recessive mutation, known as congenital progressive hydronephrosis, that results in ureteropelvic obstruction has been reported in inbred C57BL/6J mice (28). ADAMTS-null mice also have been reported to develop hydronephrosis as a result of ureteropelvic blockage (29).…”

Section: Discussionmentioning

confidence: 99%

Identification of a Unique Transgenic Mouse Line That Develops Megabladder, Obstructive Uropathy, and Renal Dysfunction

Singh

Robinson²,

Nahi³

et al. 2007

Journal of the American Society of Nephrology

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Urinary tract malformations, obstructive uropathy, and hypoplasia/dysplasia are extremely important in terms of pediatric health care costs, with end-stage renal failure in children estimated to cost >$15 billion annually in the United States alone. Even so, little is known regarding the mechanisms that control these processes. Identified was a unique mutant mouse model that develops in utero megabladder, resulting in variable hydroureteronephrosis and chronic renal failure secondary to obstructive uropathy. These animals, designated mgb for megabladder, possess a primary defect in bladder smooth muscle development that is apparent by embryonic day 15. The mgb mouse represents an excellent model for the study of normal and pathogenic bladder development, including the postnatal progression of chronic renal failure that results from the development of in utero obstructive uropathy.

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Section: Discussionmentioning

confidence: 99%

Identification of a Unique Transgenic Mouse Line That Develops Megabladder, Obstructive Uropathy, and Renal Dysfunction

Singh

Robinson²,

Nahi³

et al. 2007

Journal of the American Society of Nephrology

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“…Congenital progressive hydronephrosis (cph) was first discovered as a spontaneous, autosomal recessive trait in C57BL͞6J mice at The Jackson Laboratory in the 1970s (6,7). Because these mutants were thought to have renal cysts, they were named juvenile polycystic kidney until a later study by Horton et al (7) found that the cystic dysplasia was caused by progressive hydronephrosis resulting from urinary tract obstruction.…”

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confidence: 99%

“…Because these mutants were thought to have renal cysts, they were named juvenile polycystic kidney until a later study by Horton et al (7) found that the cystic dysplasia was caused by progressive hydronephrosis resulting from urinary tract obstruction. Horton et al (7) also mapped cph to the distal part of the long arm of mouse chromosome 15. A rough chromosomal location of 57.8 cM was assigned to the cph locus by Mouse Genome Informatics (MGI), largely based on the genetic mapping results from Horton et al (7) and the relative positions of the three markers used: caracul (Ca), underwhite (uw), and belted (bt).…”

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confidence: 99%

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Congenital progressive hydronephrosis ( cph ) is caused by an S256L mutation in aquaporin-2 that affects its phosphorylation and apical membrane accumulation

McDill

Kovach

et al. 2006

Proc. Natl. Acad. Sci. U.S.A.

128

100

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“…A genetic basis for this condition is suspected, because HN quite often occurs in mice and humans as a result of cryptic chromosomal anomalies (see, e.g., Ref. 34), isolated mutations (15), or experimental knockout of a wide variety of genes (1,12,14,25,27). HN may occur, unilaterally or bilaterally, either in isolation or as part of a syndrome affecting many systems.…”

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Localization of genetic loci controlling hydronephrosis in the Brown Norway rat and its association with hematuria

Kota

Schulz

Falak

et al. 2008

Physiological Genomics

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Kota L, Schulz H, Falak S, Hübner N, Osborne-Pellegrin M. Localization of genetic loci controlling hydronephrosis in the Brown Norway rat and its association with hematuria. Physiol Genomics 34: 215-224, 2008. First published June 3, 2008 doi:10.1152/physiolgenomics.00221.2007.-The aim of this study was to investigate the genetic basis of congenital hydronephrosis (HN), a poorly defined pathological entity, with a rat model. The Brown Norway (BN) strain spontaneously presents a high incidence of apparently asymptomatic HN, whereas the LOU strain does not. A backcross was established between these two strains [BN ϫ (BN ϫ LOU)] and a genomewide scan was performed with 193 microsatellite markers on 121 males and 118 females of this population, which had been phenotyped and scored for HN severity (defined as degree of renal pelvic dilation), followed by linkage analysis with Mapmaker/QTL software. Bilateral HN score was significantly linked to a locus on chromosome 6 (Z scores 4.4 and 4.8 for all rats and for females, respectively). Suggestive loci were identified on chromosomes 2 (for only right-sided HN) and 4. This is the first study in rats to identify genetic loci for HN. Three candidate genes present in these loci were sequenced and insertions detected in Id2 and Agtr1b genes in BN, which did not, however, lead to modified expression as measured by quantitative PCR. Production of a congenic line for part of the chromosome 6 locus confirmed its involvement in HN, but the phenotype was mild. Evidence of hematuria was observed in 9.6% of the backcross rats, mostly males and only in kidneys with HN, but not necessarily in the most severely affected. Hematuria also occurs in the BN colony used here, where it is due to papilloma-like lesions involving pelvic epithelial proliferation, but not in the LOU rat.

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Congenital Progressive Hydronephrosis in Mice: A New Recessive Mutation

Cited by 26 publications

References 10 publications

Identification of a Unique Transgenic Mouse Line That Develops Megabladder, Obstructive Uropathy, and Renal Dysfunction

Identification of a Unique Transgenic Mouse Line That Develops Megabladder, Obstructive Uropathy, and Renal Dysfunction

Congenital progressive hydronephrosis ( cph ) is caused by an S256L mutation in aquaporin-2 that affects its phosphorylation and apical membrane accumulation

Localization of genetic loci controlling hydronephrosis in the Brown Norway rat and its association with hematuria

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