Phenotypes Associated with This Genotype

Genotype
MGI:5442315

• Allelic Composition: Prkcsh^tm1Som/Prkcsh^tm1Som; Tg(CAG-cre/Esr1*)1Lbe/0
• Genetic Background: involves: 129 * 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

premature death ( J:188763 )

• in mice treated with a high does tamoxifen induction regime

liver/biliary system

liver cyst ( J:188763 )

• bile duct-derived cysts in the liver beginning at P28 in tamoxifen-treated mice

• severe by 4 to 5 months in tamoxifen-treated mice

• expression of Tg(Pkd2)#Som expression does not rescue cystic liver phenotype

• however, expression of Tg(Pdk1)248Som rescues cystic liver phenotype

growth/size/body

liver cyst ( J:188763 )

• bile duct-derived cysts in the liver beginning at P28 in tamoxifen-treated mice

• severe by 4 to 5 months in tamoxifen-treated mice

• expression of Tg(Pkd2)#Som expression does not rescue cystic liver phenotype

• however, expression of Tg(Pdk1)248Som rescues cystic liver phenotype

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic liver disease		DOID:0050770	OMIM:174050	J:188763