Phenotypes associated with this allele

• Allele Symbol: Pkd1^tm1Bdgz
• Allele Name: targeted mutation 1, William Dackowski
• Allele ID: MGI:3714781
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pkd1^tm1Bdgz/Pkd1^tm1Bdgz	involves: 129S1/Sv * 129X1/SvJ	MGI:3776499
ht2	Pkd1^tm1Bdgz/Pkd1^+	involves: 129S1/Sv * 129X1/SvJ	MGI:3776498
cx3	Nek8^jck/Nek8^+ Pkd1^tm1Bdgz/Pkd1^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3776501

Genotype
MGI:3776499

hm1

• Allelic Composition: Pkd1^tm1Bdgz/Pkd1^tm1Bdgz
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:130086 )

• no homozygous animals are identified at weaning

renal/urinary system

kidney cyst ( J:130086 )

• develop by E16.5

• E13.5 kidneys grown in vitro for 5 days with 8-Br-cAMP in the culture media display cyst formation, with higher cystic percentage than heterozygous or wild-type kidneys

• in culture, treatment with R-roscovitine inhibits cystogenesis significantly

endocrine/exocrine glands

pancreas cyst ( J:130086 )

• develop by E15.5

homeostasis/metabolism

skin edema ( J:130086 )

• embryos display edema by E13.5, becoming severe by E16.5

integument

skin edema ( J:130086 )

• embryos display edema by E13.5, becoming severe by E16.5

growth/size/body

pancreas cyst ( J:130086 )

• develop by E15.5

kidney cyst ( J:130086 )

• develop by E16.5

• E13.5 kidneys grown in vitro for 5 days with 8-Br-cAMP in the culture media display cyst formation, with higher cystic percentage than heterozygous or wild-type kidneys

• in culture, treatment with R-roscovitine inhibits cystogenesis significantly

Genotype
MGI:3776498

ht2

• Allelic Composition: Pkd1^tm1Bdgz/Pkd1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

renal/urinary system

kidney cyst ( J:130086 )

• when gross morphology is assessed, surface cysts are observed in 19% of mutants, the majority of which are older than 24 weeks; rare animals display cyst development at 6 weeks of age

• histologically, 30% of animals show cyst formation or tubular dilation between 6 and 78 weeks of age

dilated renal tubule ( J:130086 )

• histologically, 30% of animals show cyst formation or tubular dilation; animals with tubular dilation are <24 weeks of age

liver/biliary system

liver cyst ( J:130086 )

• when gross morphology is assessed, surface cysts are observed in 9% of mutants older than 40 weeks (seen in only 1 animal at 42 weeks)

endocrine/exocrine glands

pancreas cyst ( J:130086 )

• when gross morphology is assessed, surface cysts are observed in 1% of mutants older than 40 weeks

growth/size/body

pancreas cyst ( J:130086 )

• when gross morphology is assessed, surface cysts are observed in 1% of mutants older than 40 weeks

kidney cyst ( J:130086 )

• when gross morphology is assessed, surface cysts are observed in 19% of mutants, the majority of which are older than 24 weeks; rare animals display cyst development at 6 weeks of age

• histologically, 30% of animals show cyst formation or tubular dilation between 6 and 78 weeks of age

liver cyst ( J:130086 )

• when gross morphology is assessed, surface cysts are observed in 9% of mutants older than 40 weeks (seen in only 1 animal at 42 weeks)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 1		DOID:0110858	OMIM:173900	J:130086

Genotype
MGI:3776501

cx3

• Allelic Composition: Nek8^jck/Nek8⁺; Pkd1^tm1Bdgz/Pkd1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

renal/urinary system

kidney cyst ( J:130086 )

• double heterozygous animals display increased frequency of cystogenesis at 16 weeks of age, compared to single heterozygotes for either gene

growth/size/body

kidney cyst ( J:130086 )

• double heterozygous animals display increased frequency of cystogenesis at 16 weeks of age, compared to single heterozygotes for either gene