All Phenotypes Pkd2<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Pkd2⁺
wild type
MGI:2153456

Summary

10 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Pkd2^tm2Som/Pkd2⁺	involves: 129/Sv * C57BL/6J * SJL	MGI:2174706
ht2	Pkd2^tm1Som/Pkd2⁺	involves: 129/Sv * C57BL/6J * SJL	MGI:2174704
ht3	Pkd2^tm2Som/Pkd2⁺	involves: 129/Sv * C57BL/6 * SJL	MGI:3795606
cn4	Pkd2^tm2Som/Pkd2⁺ Sec63^tm1Som/Sec63^tm1Som Tg(Cdh16-cre)91Igr/0	involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL	MGI:5442322
cn5	Pkd2^tm2Som/Pkd2⁺ Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr/0	involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL	MGI:5442313
cx6	Pkd1l1^rks/Pkd1l1⁺ Pkd2^lrm4/Pkd2⁺	C3.Cg-Pkd2^lrm4 Pkd1l1^rks	MGI:4948354
cx7	Pkd1^tm1.1Pcha/Pkd1^tm1.1Pcha Pkd2^tm2Som/Pkd2⁺	involves: 129 * C57BL/6J * SJL	MGI:5697042
cx8	Pkd1^tm1.1Pcha/Pkd1^tm1.1Pcha Pkd2^tm1Som/Pkd2⁺	involves: 129 * C57BL/6J * SJL	MGI:5697044
cx9	Pkd2^tm2Som/Pkd2⁺ Pkhd1^tm1Gwu/Pkhd1^tm1Gwu	involves: 129/Sv * C57BL/6J * SJL	MGI:3826787
cx10	Pkd1^tm1Som/Pkd1⁺ Pkd2^tm2Som/Pkd2⁺	involves: 129/Sv * C57BL/6 * SJL	MGI:3795605

Allelic Composition	Pkd2^tm2Som/Pkd2⁺
Genetic Background	involves: 129/Sv * C57BL/6J * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd2^tm2Som mutation (0 available); any Pkd2 mutation (84 available)

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

mortality/aging

premature death ( J:59314 )

renal/urinary system

kidney cyst ( J:47035 , J:59314 )

• 21% exhibit unilateral renal cysts (J:47035)

• 29% of 62-88 week old heterozygotes have sparse unilateral renal cysts, however none have bilateral cysts or elevated serum urea nitrogen (J:59314)

liver/biliary system

liver cyst ( J:47035 , J:59314 )

• 10% exhibit liver cysts (J:47035)

• 53% of 62-88 week old heterozygotes have liver cysts (J:59314)

growth/size/body

kidney cyst ( J:47035 , J:59314 )

• 21% exhibit unilateral renal cysts (J:47035)

• 29% of 62-88 week old heterozygotes have sparse unilateral renal cysts, however none have bilateral cysts or elevated serum urea nitrogen (J:59314)

liver cyst ( J:47035 , J:59314 )

• 10% exhibit liver cysts (J:47035)

• 53% of 62-88 week old heterozygotes have liver cysts (J:59314)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 2		DOID:0110859	OMIM:613095	J:59314

Allelic Composition	Pkd2^tm1Som/Pkd2⁺
Genetic Background	involves: 129/Sv * C57BL/6J * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd2^tm1Som mutation (0 available); any Pkd2 mutation (84 available)

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

renal/urinary system

kidney cyst ( J:47035 )

• 7% have unilateral renal cysts

growth/size/body

kidney cyst ( J:47035 )

• 7% have unilateral renal cysts

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 2		DOID:0110859	OMIM:613095	J:47035

Allelic Composition	Pkd2^tm2Som/Pkd2⁺
Genetic Background	involves: 129/Sv * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd2^tm2Som mutation (0 available); any Pkd2 mutation (84 available)

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

liver/biliary system

liver cyst ( J:78422 )

• at 9 and 12 months of age, 20% and 29%, respectively, of livers exhibit cysts

growth/size/body

liver cyst ( J:78422 )

• at 9 and 12 months of age, 20% and 29%, respectively, of livers exhibit cysts

Allelic Composition	Pkd2^tm2Som/Pkd2⁺ Sec63^tm1Som/Sec63^tm1Som Tg(Cdh16-cre)91Igr/0
Genetic Background	involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd2^tm2Som mutation (0 available); any Pkd2 mutation (84 available)
Sec63^tm1Som mutation (0 available); any Sec63 mutation (38 available)
Tg(Cdh16-cre)91Igr mutation (1 available)

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

renal/urinary system

kidney cyst ( J:188763 )

homeostasis/metabolism

increased blood urea nitrogen level ( J:188763 )

growth/size/body

kidney cyst ( J:188763 )

Allelic Composition	Pkd2^tm2Som/Pkd2⁺ Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr/0
Genetic Background	involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd2^tm2Som mutation (0 available); any Pkd2 mutation (84 available)
Prkcsh^tm1Som mutation (0 available); any Prkcsh mutation (25 available)
Tg(Cdh16-cre)91Igr mutation (1 available)

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

renal/urinary system

kidney cyst ( J:188763 )

• more severe than in Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

increased kidney weight ( J:188763 )

homeostasis/metabolism

increased blood urea nitrogen level ( J:188763 )

growth/size/body

kidney cyst ( J:188763 )

• more severe than in Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

increased kidney weight ( J:188763 )

Allelic Composition	Pkd1l1^rks/Pkd1l1⁺ Pkd2^lrm4/Pkd2⁺
Genetic Background	C3.Cg-Pkd2^lrm4 Pkd1l1^rks

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1l1^rks mutation (2 available); any Pkd1l1 mutation (157 available)
Pkd2^lrm4 mutation (2 available); any Pkd2 mutation (84 available)

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

normal phenotype

no abnormal phenotype detected ( J:170490 )

• no abnormal kidney, cardiac or situs pathology is detected

Allelic Composition	Pkd1^tm1.1Pcha/Pkd1^tm1.1Pcha Pkd2^tm2Som/Pkd2⁺
Genetic Background	involves: 129 * C57BL/6J * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1^tm1.1Pcha mutation (0 available); any Pkd1 mutation (151 available)
Pkd2^tm2Som mutation (0 available); any Pkd2 mutation (84 available)

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

renal/urinary system

polycystic kidney ( J:220561 )

• mice show an increase in polycystic kidney disease severity than either single mutant

increased kidney weight ( J:220561 )

• kidney weight to body weight ratio is increased compared to Pkd1^tm1.1Pcha homozygotes

homeostasis/metabolism

increased blood urea nitrogen level ( J:220561 )

• blood urea nitrogen levels are increased to the same extent as in single Pkd1^tm1.1Pcha homozygotes

growth/size/body

polycystic kidney ( J:220561 )

• mice show an increase in polycystic kidney disease severity than either single mutant

increased kidney weight ( J:220561 )

• kidney weight to body weight ratio is increased compared to Pkd1^tm1.1Pcha homozygotes

Allelic Composition	Pkd1^tm1.1Pcha/Pkd1^tm1.1Pcha Pkd2^tm1Som/Pkd2⁺
Genetic Background	involves: 129 * C57BL/6J * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1^tm1.1Pcha mutation (0 available); any Pkd1 mutation (151 available)
Pkd2^tm1Som mutation (0 available); any Pkd2 mutation (84 available)

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

renal/urinary system

polycystic kidney ( J:220561 )

• mice show an intermediate level of polycystic kidney disease severity between homozygous Pkd1^tm1.1Pcha mice and double mutants homozygous for Pkd1^tm1.1Pcha and heterozygous for Pkd2^tm2Som

increased kidney weight ( J:220561 )

• kidney weight to body weight ratio is increased to the same extent as in single Pkd1^tm1.1Pcha homozygotes

homeostasis/metabolism

increased blood urea nitrogen level ( J:220561 )

• blood urea nitrogen levels are increased to the same extent as in single Pkd1^tm1.1Pcha homozygotes

growth/size/body

polycystic kidney ( J:220561 )

• mice show an intermediate level of polycystic kidney disease severity between homozygous Pkd1^tm1.1Pcha mice and double mutants homozygous for Pkd1^tm1.1Pcha and heterozygous for Pkd2^tm2Som

increased kidney weight ( J:220561 )

• kidney weight to body weight ratio is increased to the same extent as in single Pkd1^tm1.1Pcha homozygotes

Allelic Composition	Pkd2^tm2Som/Pkd2⁺ Pkhd1^tm1Gwu/Pkhd1^tm1Gwu
Genetic Background	involves: 129/Sv * C57BL/6J * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd2^tm2Som mutation (0 available); any Pkd2 mutation (84 available)
Pkhd1^tm1Gwu mutation (0 available); any Pkhd1 mutation (227 available)

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

renal/urinary system

kidney cyst ( J:143394 )

• at 1 month of age, mice have more sphere-shaped cysts than in Pkdh1^tm1Gwu homozygotes

dilated renal tubule ( J:143394 )

growth/size/body

kidney cyst ( J:143394 )

• at 1 month of age, mice have more sphere-shaped cysts than in Pkdh1^tm1Gwu homozygotes

Allelic Composition	Pkd1^tm1Som/Pkd1⁺ Pkd2^tm2Som/Pkd2⁺
Genetic Background	involves: 129/Sv * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1^tm1Som mutation (0 available); any Pkd1 mutation (151 available)
Pkd2^tm2Som mutation (0 available); any Pkd2 mutation (84 available)

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

liver/biliary system

liver cyst ( J:78422 )

• at 12 months of age, 43% of livers exhibit cysts

• mice exhibit more cysts than in wild-type mice or either heterozygote alone

renal/urinary system

kidney cyst ( J:78422 )

• at 12 months of age, 29% of kidneys exhibit gross kidney surface cysts with only 1 observed at 9 months of age

• mice exhibit more cysts than in wild-type mice or either heterozygote alone

growth/size/body

kidney cyst ( J:78422 )

• at 12 months of age, 29% of kidneys exhibit gross kidney surface cysts with only 1 observed at 9 months of age

• mice exhibit more cysts than in wild-type mice or either heterozygote alone

liver cyst ( J:78422 )

• at 12 months of age, 43% of livers exhibit cysts

• mice exhibit more cysts than in wild-type mice or either heterozygote alone

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