renal/urinary system
• at birth, 53% have grossly identifiably anomalies in the kidneys and urinary tract of these 47% are on the right side only, 15% are on the left side only and 38% are bilateral
|
kidney cyst
(
J:61482
)
• small kidney with regions devoid of nephrogenic components that are instead filled with cysts and stromal mesenchymal cells
|
• at E12.5, the number of condensed mesenchyme per kidney is reduced; however, nephron density per se is not noticeably reduced
|
• at E16.5, condensed and noninduced mesenchymal cells are reduced in number
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• at E14.5, a significantly higher number of apoptotic (TUNEL+) cells is detected in the stromal cell population of metanephric mesenchyme, unlike in wild-type controls
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• at E14.5, in small kidneys the superficial nephrogenic zone is always thinner with a reduced number of nephrogenic components
(J:61482)
• at E16.5, superficial nephrogenic components are lacking; however, the apoptotic activity in the nephrogenic zone is similar to that of wild-type controls
(J:82895)
|
• dilated caliceal space with thinning of the renal parenchyma
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• ureterovesical junction-type hydronephrosis is seen in 32% of mice with gross abnormalities
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small kidney
(
J:61482
)
• small kidney with regions devoid of nephrogenic components that are instead filled with cysts and stromal mesenchymal cells
• difference in kidney size is detectable at E14.5
|
• 60% of mice with gross anomalies show variably reduced kidney mass with microscopically dysplastic regions
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duplex kidney
(
J:61482
)
• 8% of mice with gross anomalies show duplex kidney with bifid ureter
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• at E16.5 and P0, ureters are dilated with abnormal winding and kinking in the middle portions
|
• at E13.5, the ureter still drains into the Wolffian duct unlike in wild-type controls
(J:61482)
• at E15.5, smooth muscle development of the ureter is impaired; however, the size of the ureter lumen and morphology of the ureter epithelium remain normal
(J:82895)
|
• at E15.5, the % of alpha-SMA-expressing smooth muscle cells against total mesenchymal cells around the epithelium at the most cranial portion of the ureter is significantly lower than that in wild-type controls
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bifid ureter
(
J:61482
)
• 8% of mice with gross anomalies show duplex kidney with bifid ureter
• arise from duplex kidney and unite caudally to form a single ureter that drains into the bladder
|
• variably dilated
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• in the most severely affected embryos the ureter fails to connect to the bladder, connecting instead to the seminal vesicles or vas deferens
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hydroureter
(
J:61482
)
• accompanies hydronephrosis
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• ectopic ureterovesical (UV) junction
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• at E16.5, ectopia of the ureterovesical orifice is observed, with the orifice located closer to the urethral orifice and the distance between the right and left ureteral orifices reduced
|
• at E11.5, the secondary buds are smaller
• at E11.5, both the main trunk and the stems of the first 2 branches of the ureter are significantly shorter
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• at E11.5, 2 of 19 mice had accessory buds forming from the main stem of the ureter
• at E11, the primary bud is positioned opposite the approximately 25th somite where in wild-type controls it is opposite the approximately 26th somite
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embryo
• at E14.5, a significantly higher number of apoptotic (TUNEL+) cells is detected in the stromal cell population of metanephric mesenchyme, unlike in wild-type controls
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• at E12.5, the common mesonephric duct is longer compared to wild-type controls
|
cellular
• at E14.5, a significantly higher number of apoptotic (TUNEL+) cells is detected in the stromal cell population of metanephric mesenchyme, unlike in wild-type controls
|
growth/size/body
kidney cyst
(
J:61482
)
• small kidney with regions devoid of nephrogenic components that are instead filled with cysts and stromal mesenchymal cells
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
urinary system disease | DOID:18 | J:61482 |