Phenotypes Associated with This Genotype

Genotype
MGI:5774940

• Allelic Composition: Exoc5^{tm1c(KOMP)Mbp}/Exoc5^{tm1c(KOMP)Mbp}; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6N * ICR

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

neonatal lethality, incomplete penetrance ( J:226950 )

• nearly all mice die 6 to 14 hours after birth due to urinary obstruction

• however, a few mice survive past the first day

renal/urinary system

renal/urinary system phenotype ( J:226950 )

N • no apoptosis is detected in collecting duct epithelia

hydronephrosis ( J:226950 , J:250161 )

• severe bilateral in dead newborn mice (J:226950)

• however, mice that survive beyond the first day do not exhibit hydronephrosis (J:226950)

dilated renal tubule ( J:226950 )

• along the nephron, including at the tips of branching ureteric buds

• most severe dilation is found in the distal sections of the nephron

abnormal ureter morphology ( J:250161 )

• uroplakin plaques are completely missing on the luminal surface of E17.5 ureters

abnormal ureter smooth muscle morphology ( J:226950 )

• increased proliferation rates by E17.5

abnormal ureter urothelium morphology ( J:226950 , J:250161 )

• absence of lumen in obstructed ureters with rampant overgrowth of mesenchymal-shaped cells that may be either smooth muscle cells or myofibroblasts (J:226950)

• urothelial layer at E16.5 shows a reduction in apical microvilli (J:250161)

• E17.5 ureters show an abnormal single urothelial layer rather than a two-layered urothelium, with gaps in the epithelium and cells pulling away from the basement membrane toward the center of the lumen (J:250161)

• urothelial cells at E17.5 have lost large amounts of cytoplasm, and show irregular disrupted plasma membranes and unusual distributions of electron-dense material in the nuclei (J:250161)

• at E17.5, but not E16.5, the urothelial layer is about half the width or control urothelium (J:250161)

• ureters show a complete loss of the epithelial layer at E18.5, indicating urothelial degeneration (J:250161)

• urothelial cells do not show tight cell-cell contacts at E17.5 (J:250161)

• ureters at E17.5 show a complete absence of intracellular vesicles in the apical membrane of the superficial urothelial cells (J:250161)

• urothelial cells in the developing ureter die largely due to necrosis and not apoptosis (J:250161)

• however, no changes in the width of the smooth muscle layer are seen at E16.5 or E17.5 (J:250161)

ureter obstruction ( J:226950 )

ureteropelvic junction obstruction ( J:226950 , J:250161 )

• develops between E16.5 and E18.5 (J:226950)

• at E18.5 and in newborn mice with deposits of white debris (J:226950)

• mice develop bilateral in utero ureteropelvic junction obstructions, with granulation tissue filling the ureter lumen (J:250161)

• obstructed ureters exhibit stromal remodeling, with the lumen filled with fibroblastic cells and extracellular matrix deposits (J:250161)

abnormal ureter physiology ( J:226950 , J:250161 )

• increased smooth muscle proliferation rates by E17.5 (J:226950)

• urothelial barrier is compromised in the E17.5 ureter becoming leaky to luminal fluid (J:250161)

anuria ( J:226950 )

• in newborn mice

cardiovascular system

abnormal heart morphology ( J:226950 )

• heart distention in mice that die after birth

hemorrhage ( J:226950 )

• in mice that die after birth

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
obstructive nephropathy		DOID:0070314		J:226950 , J:250161