Phenotypes Associated with This Genotype

Genotype
MGI:5298019

• Allelic Composition: Tg(Ggt1-Hif1a*)43Log/0
• Genetic Background: involves: C57BL/6

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

renal/urinary system

abnormal kidney vasculature morphology ( J:177381 )

• dilated and filled with red blood cells near kidney cysts

kidney cyst ( J:177381 )

• tubular cysts at 12 months

• however, not glomerular cysts are present

increased renal carcinoma incidence ( J:177381 )

• proximal tubule cells exhibit clear cells with moderate to marked swelling, cytoplasmic vacuolation, and prominent cell membranes covering 30% to 50% of the cortex indicative of clear cell renal cell carcinoma (ccRCC) unlike wild-type cells

neoplasm

increased renal carcinoma incidence ( J:177381 )

• proximal tubule cells exhibit clear cells with moderate to marked swelling, cytoplasmic vacuolation, and prominent cell membranes covering 30% to 50% of the cortex indicative of clear cell renal cell carcinoma (ccRCC) unlike wild-type cells

cardiovascular system

abnormal kidney vasculature morphology ( J:177381 )

• dilated and filled with red blood cells near kidney cysts

growth/size/body

kidney cyst ( J:177381 )

• tubular cysts at 12 months

• however, not glomerular cysts are present

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
von Hippel-Lindau disease		DOID:14175	OMIM:193300	J:177381