Phenotypes Associated with This Genotype

Genotype
MGI:6287155

• Allelic Composition: Mitf^{Tg(Tff3-Tmem207)2Tamo}/Mitf⁺
• Genetic Background: involves: C57BL/6

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

renal/urinary system

polycystic kidney ( J:244533 )

• progressive development of cysts in the cortex and medulla and in the corticomedullary junction

• cysts appear empty or filled with an acidophilic material or fresh blood

• however, calcified deposits, renal cell carcinoma, thickening and lamination of tubular basement membranes, and glomerular and vascular sclerosis are not seen

kidney inflammation ( J:244533 )

• focal lymphocytic infiltrate is seen in the intervening kidney tissue

increased glomerular capsule space ( J:244533 )

• cystic dilation of the Bowman space around glomeruli is occasionally seen

renal interstitial fibrosis ( J:244533 )

• mild interstitial fibrosis is seen in the intervening kidney tissue

abnormal kidney pelvis morphology ( J:244533 )

• mild expansion of the renal pelvis

renal tubule atrophy ( J:244533 )

• tubular atrophy is seen in the intervening kidney tissue

abnormal loop of Henle morphology ( J:244533 )

• occasionally dilation of the loop of Henle is seen

dilated renal tubule ( J:244533 )

• renal tubules are dilated due to cysts

endocrine/exocrine glands

pancreas cyst ( J:244533 )

• some mice with renal cysts also have pancreatic cysts

immune system

kidney inflammation ( J:244533 )

• focal lymphocytic infiltrate is seen in the intervening kidney tissue

liver/biliary system

liver cyst ( J:244533 )

• some mice with renal cysts also have small liver cysts

growth/size/body

pancreas cyst ( J:244533 )

• some mice with renal cysts also have pancreatic cysts

polycystic kidney ( J:244533 )

• progressive development of cysts in the cortex and medulla and in the corticomedullary junction

• cysts appear empty or filled with an acidophilic material or fresh blood

• however, calcified deposits, renal cell carcinoma, thickening and lamination of tubular basement membranes, and glomerular and vascular sclerosis are not seen

liver cyst ( J:244533 )

• some mice with renal cysts also have small liver cysts

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease		DOID:0080322	OMIM:PS173900	J:244533