renal/urinary system
small kidney
(
J:145105
)
• at P1, heterozygous kidneys are significantly smaller than wild-type
|
• at E11-E17 and occasionally at P1, 27.6% of heterozygotes display hydroureters as well as bifid ureters and duplicated urinary tracts
• at P1, both left and right intravesical ureters (portion of ureter within the bladder wall) are significantly shorter than in wild-type controls
|
bifid ureter
(
J:145105
)
• at P1, a bifid ureter with an abnormal cystic lower renal pole is sometimes observed
|
• at P1, refluxing ureters are dilated but histologically normal
• the smooth muscle layer is intact and all ureteral layers appear grossly normal
|
• duplicated ureters are sometimes observed
|
hydroureter
(
J:145105
)
• at E10.5, a more caudally positioned ureteric bud is observed relative to that in wild-type controls
• the distance from the end of the mesonephric duct to the edge of the ureteric bud is significantly shorter than in wild-type controls
• however, double ureteric buds are never seen
|
• at P1, 31.4% of heterozygotes exhibit vesicoureteral reflux (VUR) relative to 6.25% of wild-type controls, as identified by the retrograde passage of methylene blue dye to the ureters
• both unilateral and bilateral VUR is seen; however, left-sided VUR is more frequently observed
• at P1, 45% of heterozygous males show VUR relative to only 12% of heterozygous females
• in one mouse with a duplicated urinary tract, VUR is found in both ureters extending to the upper and lower pole of the duplex kidney
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
renal coloboma syndrome | DOID:0090006 |
OMIM:120330 |
J:145105 |