Phenotypes Associated with This Genotype

Genotype
MGI:3714838

• Allelic Composition: Xylt2^tm1Meh/Xylt2^tm1Meh
• Genetic Background: involves: 129P2/OlaHsd

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

The basement membranes of cysts in Xylt2^tm1Meh/Xylt2^tm1Meh mice resemble those of polycystic kidney disease

liver/biliary system

liver cyst ( J:122291 )

• at 4 and 5 months, 50% of mice have numerous cysts

• cysts are susceptible to rupture and exude a clear and acellular fluid with occasional brown and rarely green tinge

increased liver weight ( J:122291 )

• at 3 to 5 months, liver weight is increased even in cyst-free livers

liver hyperplasia ( J:122291 )

• mice have an increased number of cells within the liver due to biliary epithelial cell hyperplasia, accompanied by oval cell proliferation, and small basophilic mononuclear cells

abnormal biliary tract morphology ( J:122291 )

• biliary tract hyperplasia

liver fibrosis ( J:122291 )

• the liver portal triad shows increased fibrosis that diminishes the sinusoidal area

abnormal liver physiology ( J:122291 )

• liver proteoglycans are reduced

• however, liver development and function are normal

renal/urinary system

kidney cyst ( J:122291 )

• basement membrane cysts in renal tubules are similar to those found in Cys1 homozygous mice

increased kidney weight ( J:122291 )

• at 3, 10 months, kidney weight is increased

hydronephrosis ( J:122291 )

• at 6 to 7 months in 6 of 8 mice and 9 to 10 months in 5 of 7 mice

dilated renal tubule ( J:122291 )

• at 9 to 10 months, males have dilated renal tubules

homeostasis/metabolism

increased blood urea nitrogen level ( J:122291 )

• blood urea nitrogen is increased 21% in younger mice and 36% in older mice

growth/size/body

kidney cyst ( J:122291 )

• basement membrane cysts in renal tubules are similar to those found in Cys1 homozygous mice

liver cyst ( J:122291 )

• at 4 and 5 months, 50% of mice have numerous cysts

• cysts are susceptible to rupture and exude a clear and acellular fluid with occasional brown and rarely green tinge

increased kidney weight ( J:122291 )

• at 3, 10 months, kidney weight is increased

increased liver weight ( J:122291 )

• at 3 to 5 months, liver weight is increased even in cyst-free livers

liver hyperplasia ( J:122291 )

• mice have an increased number of cells within the liver due to biliary epithelial cell hyperplasia, accompanied by oval cell proliferation, and small basophilic mononuclear cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease		DOID:0080322	OMIM:PS173900	J:122291