Phenotypes associated with this allele

• Allele Symbol: Pkhd1^tm2Cjwa
• Allele Name: targeted mutation 2, Christopher J Ward
• Allele ID: MGI:5438324
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pkhd1^tm2Cjwa/Pkhd1^tm2Cjwa	either: B6.129(Cg)-Pkhd1^tm2Cjwa or C.129(Cg)-Pkhd1^tm2Cjwa	MGI:5438332

Genotype
MGI:5438332

hm1

• Allelic Composition: Pkhd1^tm2Cjwa/Pkhd1^tm2Cjwa
• Genetic Background: either: B6.129(Cg)-Pkhd1^tm2Cjwa or C.129(Cg)-Pkhd1^tm2Cjwa

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

liver/biliary system

liver cyst ( J:187735 )

• mice develop progressive polycystic liver disease beginning at 3 months of age

• liver is completely replaced by cysts at 12 months of age

increased liver weight ( J:187735 )

• significant increase in liver to body weight ratios in both sexes at 6, 9 and 12 months of age as compared to Pkhd1^tm2.1Cjwa mice

liver fibrosis ( J:187735 )

• visible by histology at 1 month of age

renal/urinary system

kidney cyst ( J:187735 )

♀ • only observed in females

increased kidney weight ( J:187735 )

• significant increase in kidney to body weight ratios in both sexes at 9 months of age as compared to Pkhd1^tm2.1Cjwa mice

• significant increase in kidney to body weight ratios in females, but not males at 12 months of age as compared to Pkhd1^tm2.1Cjwa mice

dilated proximal convoluted tubule ( J:187735 )

♀ • females, but not males, develop proximal tubule dilation at 3 to 6 months of age

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:187735 )

N • pancreas to body weight ratio is not significant for any timepoint when compared to Pkhd1^tm2.1Cjwa mice

growth/size/body

kidney cyst ( J:187735 )

♀ • only observed in females

liver cyst ( J:187735 )

• mice develop progressive polycystic liver disease beginning at 3 months of age

• liver is completely replaced by cysts at 12 months of age

increased kidney weight ( J:187735 )

• significant increase in kidney to body weight ratios in both sexes at 9 months of age as compared to Pkhd1^tm2.1Cjwa mice

• significant increase in kidney to body weight ratios in females, but not males at 12 months of age as compared to Pkhd1^tm2.1Cjwa mice

increased liver weight ( J:187735 )

• significant increase in liver to body weight ratios in both sexes at 6, 9 and 12 months of age as compared to Pkhd1^tm2.1Cjwa mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive polycystic kidney disease		DOID:0110861		J:187735