Phenotypes associated with this allele

• Allele Symbol: Pkd1^tm2Som
• Allele Name: targeted mutation 2, Stefan Somlo
• Allele ID: MGI:3793791
• Summary: 8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Pkd1^tm1.1Pcha/Pkd1^tm2Som Tg(Cdh16-cre)91Igr/0	involves: 129 * 129S4/SvJae * C57BL/6 * ICR	MGI:6317334
cn2	Mirc1^tm1.1Tyj/Mirc1^tm1.1Tyj Pkd1^tm1.1Pcha/Pkd1^tm2Som Tg(Cdh16-cre)91Igr/0	involves: 129 * 129S4/SvJae * C57BL/6 * ICR	MGI:6317335
cn3	Mirc1^tm1.1Tyj/Mirc1^tm1.1Tyj Pkd1^tm2Som/Pkd1^tm2Som Tg(Cdh16-cre)91Igr/0	involves: 129S4/SvJae * C57BL/6 * ICR	MGI:6317328
cn4	Pkd1^tm2Som/Pkd1^tm2Som Tg(Cdh16-cre)91Igr/0	involves: 129S4/SvJae * C57BL/6 * ICR	MGI:6317327
cn5	Pkd1^tm1Som/Pkd1^tm2Som Tg(Cdh16-cre/ERT2)24Igr/?	involves: 129/Sv * C57BL/6 * SJL	MGI:5430908
cn6	Pkd1^tm2Som/Pkd1^tm2.1Som Tg(Cdh16-cre)91Igr/0	involves: C57BL/6 * ICR * SJL	MGI:3795669
cn7	Pkd1^tm2Som/Pkd1^tm2Som Tg(Cdh16-cre)91Igr/0	involves: C57BL/6 * ICR * SJL	MGI:3795670
cn8	Pkd1^tm2Som/Pkd1^tm2Som Tg(Pkhd1-cre)1Igr/0	involves: C57BL/6 * SJL	MGI:3795671

Genotype
MGI:6317334

cn1

• Allelic Composition: Pkd1^tm1.1Pcha/Pkd1^tm2Som; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129 * 129S4/SvJae * C57BL/6 * ICR

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

mortality/aging

premature death ( J:244067 )

• median survival is 206 days

renal/urinary system

polycystic kidney ( J:244067 )

• mice develop polycystic kidney disease

renal interstitial fibrosis ( J:244067 )

abnormal kidney physiology ( J:244067 )

• mice show impaired renal function

increased kidney cell proliferation ( J:244067 )

• increase in cyst epithelial cell proliferation

cellular

abnormal peroxisome morphology ( J:244067 )

• the number of peroxisomes is decreased in kidney cysts

increased kidney cell proliferation ( J:244067 )

• increase in cyst epithelial cell proliferation

decreased fatty acid oxidation ( J:244067 )

• fatty acid oxidation is decreased in kidneys

oxidative stress ( J:244067 )

• reactive oxidative species level is increased in the kidneys

homeostasis/metabolism

decreased fatty acid oxidation ( J:244067 )

• fatty acid oxidation is decreased in kidneys

increased circulating creatinine level ( J:244067 )

• levels are increased at 3, 7, and 15 weeks of age

growth/size/body

polycystic kidney ( J:244067 )

• mice develop polycystic kidney disease

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 1		DOID:0110858	OMIM:173900	J:244067

Genotype
MGI:6317335

cn2

• Allelic Composition: Mirc1^tm1.1Tyj/Mirc1^tm1.1Tyj; Pkd1^tm1.1Pcha/Pkd1^tm2Som; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129 * 129S4/SvJae * C57BL/6 * ICR

renal/urinary system

renal/urinary system phenotype ( J:244067 )

N • renal function and renal interstitial fibrosis are improved compared to conditional Pkd1 compound heterozygotes and mice live past 1 year of age

decreased kidney cell proliferation ( J:244067 )

• mice show a decrease in cyst epithelial cell proliferation compared to conditional Pkd1 compound heterozygotes

kidney cyst ( J:244067 )

• cyst size is reduced compared to conditional Pkd1 compound heterozygotes

decreased kidney weight ( J:244067 )

• kidney weight is reduced compared to conditional Pkd1 compound heterozygotes

cellular

abnormal peroxisome morphology ( J:244067 )

• the number of peroxisomes in the kidneys is reduced compared to conditional Pkd1 compound heterozygotes

decreased kidney cell proliferation ( J:244067 )

• mice show a decrease in cyst epithelial cell proliferation compared to conditional Pkd1 compound heterozygotes

increased fatty acid oxidation ( J:244067 )

• fatty acid oxidation is increased in kidneys compared to conditional Pkd1 compound heterozygotes

abnormal redox activity ( J:244067 )

• reactive oxidative species level is decreased in the kidneys compared to conditional Pkd1 compound heterozygotes

homeostasis/metabolism

increased fatty acid oxidation ( J:244067 )

• fatty acid oxidation is increased in kidneys compared to conditional Pkd1 compound heterozygotes

decreased circulating creatinine level ( J:244067 )

• mice show decreased levels at 3, 7, and 15 weeks of age compared to conditional Pkd1 compound heterozygotes

growth/size/body

kidney cyst ( J:244067 )

• cyst size is reduced compared to conditional Pkd1 compound heterozygotes

Genotype
MGI:6317328

cn3

• Allelic Composition: Mirc1^tm1.1Tyj/Mirc1^tm1.1Tyj; Pkd1^tm2Som/Pkd1^tm2Som; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * ICR

mortality/aging

premature death ( J:244067 )

• mice exhibit a median survival of 21 days which is a 50% improvement compared to single Pkd1 conditional mutants

renal/urinary system

decreased kidney cell proliferation ( J:244067 )

• the number of proliferating cyst epithelial cells is reduced by 78.7% compared to single Pkd1 conditional mutants

decreased kidney weight ( J:244067 )

• mice exhibit a 26.8% reduction in kidney-weight-to-body-weight ratio compared to single Pkd1 conditional mutants

cellular

decreased kidney cell proliferation ( J:244067 )

• the number of proliferating cyst epithelial cells is reduced by 78.7% compared to single Pkd1 conditional mutants

homeostasis/metabolism

decreased circulating creatinine level ( J:244067 )

• mice exhibit a 22% reduction in serum creatinine levels compared to single Pkd1 conditional mutants

Genotype
MGI:6317327

cn4

• Allelic Composition: Pkd1^tm2Som/Pkd1^tm2Som; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * ICR

mortality/aging

postnatal lethality, complete penetrance ( J:244067 )

• median survival is 14 days, with mice starting to die around 10 days and most die by 20 days of age

renal/urinary system

increased kidney cell proliferation ( J:244067 )

• increase in cyst epithelial cell proliferation

polycystic kidney ( J:244067 )

• mice develop an early-onset and rapidly fatal form of polycystic kidney disease

cellular

increased kidney cell proliferation ( J:244067 )

• increase in cyst epithelial cell proliferation

homeostasis/metabolism

increased circulating creatinine level ( J:244067 )

growth/size/body

polycystic kidney ( J:244067 )

• mice develop an early-onset and rapidly fatal form of polycystic kidney disease

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 1		DOID:0110858	OMIM:173900	J:244067

Genotype
MGI:5430908

cn5

• Allelic Composition: Pkd1^tm1Som/Pkd1^tm2Som; Tg(Cdh16-cre/ERT2)24Igr/?
• Genetic Background: involves: 129/Sv * C57BL/6 * SJL

cellular

abnormal mitotic spindle morphology ( J:185863 )

• loss of orientation of cell division to the lumen of the medullary collecting ducts of the kidney starts to develop after tubules begin to dilate

• no significant change in orientation of cell division to the lumen of the collecting ducts of the kidney at 3 days of age

Genotype
MGI:3795669

cn6

• Allelic Composition: Pkd1^tm2Som/Pkd1^tm2.1Som; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: C57BL/6 * ICR * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:135301 )

• mice die between P14 and P17 of renal failure

renal/urinary system

abnormal kidney morphology ( J:135301 )

• at P7, proliferation of the cyst lining cells in the kidney is increased compared to in wild-type mice

polycystic kidney ( J:135301 )

• mice exhibit a rapid progression of polycystic disease

increased kidney weight ( J:135301 )

• an increased kidney weight to body weight ratio is observed at day 4 and increases rapidly thereafter

kidney failure ( J:135301 )

• mice die between P14 and P17 of renal failure

homeostasis/metabolism

increased blood urea nitrogen level ( J:135301 )

• the rapid increase in blood urea nitrogen level is associated with the cystic enlargement of the kidneys

decreased circulating glucose level ( J:135301 )

• at two weeks of age

increased circulating cholesterol level ( J:135301 )

• at two weeks of age

increased circulating phosphate level ( J:135301 )

growth/size/body

polycystic kidney ( J:135301 )

• mice exhibit a rapid progression of polycystic disease

increased kidney weight ( J:135301 )

• an increased kidney weight to body weight ratio is observed at day 4 and increases rapidly thereafter

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 1		DOID:0110858	OMIM:173900	J:135301

Genotype
MGI:3795670

cn7

• Allelic Composition: Pkd1^tm2Som/Pkd1^tm2Som; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: C57BL/6 * ICR * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:135301 )

• mice die between P14 and P17 of renal failure

renal/urinary system

abnormal kidney morphology ( J:135301 )

• at P7, proliferation of the cyst lining cells in the kidney is increased compared to in wild-type mice

polycystic kidney ( J:135301 )

• mice exhibit a rapid progression of polycystic disease

increased kidney weight ( J:135301 )

• an increased kidney weight to body weight ratio is observed at day 4 and increases rapidly thereafter

kidney failure ( J:135301 )

• mice die between P14 and P17 of renal failure

homeostasis/metabolism

increased blood urea nitrogen level ( J:135301 )

• the rapid increase in blood urea nitrogen level is associated with the cystic enlargement of the kidneys

decreased circulating glucose level ( J:135301 )

• at two weeks of age

increased circulating cholesterol level ( J:135301 )

• at two weeks of age

increased circulating phosphate level ( J:135301 )

growth/size/body

polycystic kidney ( J:135301 )

• mice exhibit a rapid progression of polycystic disease

increased kidney weight ( J:135301 )

• an increased kidney weight to body weight ratio is observed at day 4 and increases rapidly thereafter

Genotype
MGI:3795671

cn8

• Allelic Composition: Pkd1^tm2Som/Pkd1^tm2Som; Tg(Pkhd1-cre)1Igr/0
• Genetic Background: involves: C57BL/6 * SJL

renal/urinary system

abnormal kidney morphology ( J:135301 )

• at P24, proliferation of the cyst lining cells in the kidney is increased compared to in wild-type mice

kidney cyst ( J:135301 )

growth/size/body

kidney cyst ( J:135301 )