Phenotypes associated with this allele

• Allele Symbol: Pkd1⁺
• Allele Name: wild type
• Allele ID: MGI:2153455
• Summary: 17 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Pkd1^tm1b(EUCOMM)Hmgu/Pkd1^+	C57BL/6N-Pkd1^tm1b(EUCOMM)Hmgu/Bay	MGI:6263170
ht2	Pkd1^tm2Jzh/Pkd1^+	either: (involves: 129S4/SvJae * BALB/c) or (involves: 129S4/SvJae * C57BL/6)	MGI:3617490
ht3	Pkd1^tm1Jzh/Pkd1^+	either: (involves: 129S4/SvJae * C57BL/6) or (involves: 129S4/SvJae * BALB/c)	MGI:3531216
ht4	Pkd1^tm1.2Djmp/Pkd1^+	involves: 129P2/OlaHsd * FVB/N	MGI:3771707
ht5	Pkd1^tm1Bdgz/Pkd1^+	involves: 129S1/Sv * 129X1/SvJ	MGI:3776498
ht6	Pkd1^tm1Rsa/Pkd1^+	involves: 129S4/SvJaeSor	MGI:2173244
ht7	Pkd1^tm1Som/Pkd1^+	involves: 129/Sv * C57BL/6 * SJL	MGI:3795607
cn8	Pkd1^tm1Som/Pkd1^+ Sec63^tm1Som/Sec63^tm1Som Tg(Cdh16-cre)91Igr/0	involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL	MGI:5442321
cn9	Pkd1^tm1Som/Pkd1^+ Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr/0	involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL	MGI:5442311
cn10	Pkd1^tm2Ggg/Pkd1^+ Tg(Pax8-rtTA2S*M2)1Koes/0 Tg(tetO-cre)1Jaw/0	involves: 129S4/SvJae * C57BL/6 * C57BL/6N * DBA * SJL	MGI:6392326
cn11	Tulp3^tm1c(EUCOMM)Hmgu/Tulp3^tm1c(EUCOMM)Hmgu Pkd1^tm2Ggg/Pkd1^+ Tg(Pax8-rtTA2S*M2)1Koes/0 Tg(tetO-cre)1Jaw/0	involves: 129S4/SvJae * C57BL/6 * C57BL/6N * DBA * SJL	MGI:6392322
cn12	Pkd1^tm2Ggg/Pkd1^+ Tg(Col1a1-cre)1Bek/0	involves: 129S4/SvJae * CD-1	MGI:5502424
cx13	Pkd1^tm1.1Pcha/Pkd1^+ Pkd2^tm1Som/Pkd2^tm2Som	involves: 129 * C57BL/6J * SJL	MGI:5697046
cx14	Nek8^jck/Nek8^+ Pkd1^tm1Bdgz/Pkd1^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3776501
cx15	Pkd1^tm1Ggg/Pkd1^+ Pkhd1^tm1.1Ggg/Pkhd1^tm1.1Ggg	involves: 129S/SvEv * 129S4/SvJae * C57BL/6	MGI:3759226
cx16	Pkd1^tm1Som/Pkd1^+ Tg(Pkd1*)39Mtru/0	involves: 129/Sv * C57BL/6J * CBA/J * SJL	MGI:5546346
cx17	Pkd1^tm1Som/Pkd1^+ Pkd2^tm2Som/Pkd2^+	involves: 129/Sv * C57BL/6 * SJL	MGI:3795605

Genotype
MGI:6263170

ht1

• Allelic Composition: Pkd1^{tm1b(EUCOMM)Hmgu}/Pkd1⁺
• Genetic Background: C57BL/6N-Pkd1^{tm1b(EUCOMM)Hmgu}/Bay
• Cell Lines: HEPD0812_1_A01

Data Sources

IMPC Data for Pkd1

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

hematopoietic system

decreased erythrocyte cell number ( J:211773 )

♀

IMPC - HAR

decreased hematocrit ( J:211773 )

IMPC - HAR

increased neutrophil cell number ( J:211773 )

♂

IMPC - HAR

homeostasis/metabolism

decreased circulating alkaline phosphatase level ( J:211773 )

♀

IMPC - HAR

decreased circulating total protein level ( J:211773 )

IMPC - HAR

immune system

increased neutrophil cell number ( J:211773 )

♂

IMPC - HAR

Genotype
MGI:3617490

ht2

• Allelic Composition: Pkd1^tm2Jzh/Pkd1⁺
• Genetic Background: either: (involves: 129S4/SvJae * BALB/c) or (involves: 129S4/SvJae * C57BL/6)

renal/urinary system

kidney cyst ( J:72627 )

• microscopic kidney cysts are seen as early as 2.5 months of age, much earlier than in heterozygous Pkd1^tm1Jzh mice

• 70% or 2.5-14.5 month old mice have 2-30 cysts

liver/biliary system

liver cyst ( J:72627 )

• 48% develop visible liver cysts that are first observed at 11 months of age and all have cysts at later stages (18-24 months)

endocrine/exocrine glands

pancreas cyst ( J:72627 )

• 1 of 21 mice develop a pancreatic cyst at 14.5 months of age

growth/size/body

pancreas cyst ( J:72627 )

• 1 of 21 mice develop a pancreatic cyst at 14.5 months of age

kidney cyst ( J:72627 )

• microscopic kidney cysts are seen as early as 2.5 months of age, much earlier than in heterozygous Pkd1^tm1Jzh mice

• 70% or 2.5-14.5 month old mice have 2-30 cysts

liver cyst ( J:72627 )

• 48% develop visible liver cysts that are first observed at 11 months of age and all have cysts at later stages (18-24 months)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 1		DOID:0110858	OMIM:173900	J:72627

Genotype
MGI:3531216

ht3

• Allelic Composition: Pkd1^tm1Jzh/Pkd1⁺
• Genetic Background: either: (involves: 129S4/SvJae * C57BL/6) or (involves: 129S4/SvJae * BALB/c)

digestive/alimentary system

abnormal exocrine pancreas morphology ( J:72627 )

• at >20 months, heterozygotes show multiple cystic structures lined by cuboidal cyst epithelium

abnormal pancreatic acinus morphology ( J:72627 )

• at >20 months, few acini are present; in areas of pancreatic lipomatosis, acini appear atrophic, isolated, and surrounded by mature adipocytes

dilated pancreatic duct ( J:72627 )

• at >20 months, heterozygotes show dilatation of pancreatic ducts

exocrine pancreas atrophy ( J:72627 )

• acini appear atrophic in areas of pancreatic lipomatosis

endocrine/exocrine glands

abnormal exocrine pancreas morphology ( J:72627 )

• at >20 months, heterozygotes show multiple cystic structures lined by cuboidal cyst epithelium

abnormal pancreatic acinus morphology ( J:72627 )

• at >20 months, few acini are present; in areas of pancreatic lipomatosis, acini appear atrophic, isolated, and surrounded by mature adipocytes

dilated pancreatic duct ( J:72627 )

• at >20 months, heterozygotes show dilatation of pancreatic ducts

exocrine pancreas atrophy ( J:72627 )

• acini appear atrophic in areas of pancreatic lipomatosis

abnormal bile duct morphology ( J:52573 )

• heterozygotes exhibit ductal plate malformation with occasional biliary microhamartomas

decreased pancreatic islet number ( J:72627 )

• at >20 months, few islets are present

pancreas cyst ( J:72627 )

• at >20 months, 10% of heterozygotes display macroscopic pancreatic cysts; no cysts are observed at 9-20 months

• some cysts with small lumens also contain cuboidal epithelium, with a large portion of eosinophilic cytoplasm suggesting an acinar origin

pancreas fibrosis ( J:72627 )

• at >20 months, pancreatic cystic lesions are surrounded by interstitial fibrosis

pancreas lipomatosis ( J:72627 )

• at >20 months, the pancreas is massively replaced by adipose tissue

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:52573 )

N • after 16 months, 7out of 8 heterozygotes exhibit normal serum creatinine levels (normal renal excretory function) relative to wild-type

abnormal circulating creatinine level ( J:52573 )

• after 16 months, only 1 out of 8 heterozygotes exhibits severe disease and abnormal serum creatinine levels, indicating compromised renal excretory function

immune system

bile duct inflammation ( J:52573 )

• in heterozygotes, impaired liver function correlates with cyst volume and cholangitis; increased cyst volume is due to increased secretion from the cystic epithelia

kidney inflammation ( J:52573 )

• in heterozygotes, large renal cysts are often surrounded by atrophic parenchyma with inflammation

liver/biliary system

abnormal bile duct morphology ( J:52573 )

• heterozygotes exhibit ductal plate malformation with occasional biliary microhamartomas

liver cyst ( J:52573 )

• at 9-14 months of age, 4 out of 15 heterozygotes (27%) display liver cysts; notably, no liver cysts are found in perinatal homozygotes

• after 14 months of age, 7 of 8 (87%) heterozygotes have liver cysts filled with clear or dark-brown fluid (up to 10 ml in volume) occupying one- to two-thirds of the liver

• most liver cysts are lined by cuboidal or squamous biliary-like epithelium positive for cytokeratin 19 (a biliary-specific epithelial marker) and show focal hyperplasia

bile duct inflammation ( J:52573 )

• in heterozygotes, impaired liver function correlates with cyst volume and cholangitis; increased cyst volume is due to increased secretion from the cystic epithelia

dissociated hepatocytes ( J:52573 )

• heterozygotes with multiple liver cysts exhibit little residual parenchyma relative to wild-type mice

decreased liver function ( J:52573 )

• in heterozygotes, cyst number and impaired liver function are associated with a significant rise in ALT, AST and LDH enzyme levels with progressive age

renal/urinary system

renal/urinary system phenotype ( J:43193 )

N • heterozygotes show no differences in kidney anatomy or histology up to 7 months of age; no renal cysts are observed at 220 days

kidney cyst ( J:52573 )

• at 9-14 months of age, 12 out of 15 heterozygotes (80%) display 1-7 renal cysts per mouse; 5 of these mutants show bilateral cysts

• after 16 months, 100% of heterozygotes have renal cysts (2-50 per mouse); 6 of 8 heterozygotes show bilateral cysts

• most cysts fail to stain with lotus tetragonolobus lectin, a proximal tubule marker, and dolichos biflorus agglutinin, a collecting tubule marker; in contrast, glomerular cysts are common

• notably, some cysts show loss of polycystin-1 expression; in addition, EGFR is improperly localized to apical membranes in cysts and some slightly dilated tubules

• in heterozygotes, large cysts contain epithelia that range from columnar to cuboidal to squamous

kidney inflammation ( J:52573 )

• in heterozygotes, large renal cysts are often surrounded by atrophic parenchyma with inflammation

renal interstitial fibrosis ( J:52573 )

• in heterozygotes, large renal cysts are often surrounded by atrophic parenchyma with interstitial fibrosis

dilated renal tubule ( J:52573 )

• at 9-14 months of age, heterozygotes with renal cysts show a greater than 5-fold dilatation in tubule diameter relative to wild-type

growth/size/body

pancreas cyst ( J:72627 )

• at >20 months, 10% of heterozygotes display macroscopic pancreatic cysts; no cysts are observed at 9-20 months

• some cysts with small lumens also contain cuboidal epithelium, with a large portion of eosinophilic cytoplasm suggesting an acinar origin

kidney cyst ( J:52573 )

• at 9-14 months of age, 12 out of 15 heterozygotes (80%) display 1-7 renal cysts per mouse; 5 of these mutants show bilateral cysts

• after 16 months, 100% of heterozygotes have renal cysts (2-50 per mouse); 6 of 8 heterozygotes show bilateral cysts

• most cysts fail to stain with lotus tetragonolobus lectin, a proximal tubule marker, and dolichos biflorus agglutinin, a collecting tubule marker; in contrast, glomerular cysts are common

• notably, some cysts show loss of polycystin-1 expression; in addition, EGFR is improperly localized to apical membranes in cysts and some slightly dilated tubules

• in heterozygotes, large cysts contain epithelia that range from columnar to cuboidal to squamous

liver cyst ( J:52573 )

• at 9-14 months of age, 4 out of 15 heterozygotes (27%) display liver cysts; notably, no liver cysts are found in perinatal homozygotes

• after 14 months of age, 7 of 8 (87%) heterozygotes have liver cysts filled with clear or dark-brown fluid (up to 10 ml in volume) occupying one- to two-thirds of the liver

• most liver cysts are lined by cuboidal or squamous biliary-like epithelium positive for cytokeratin 19 (a biliary-specific epithelial marker) and show focal hyperplasia

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 1		DOID:0110858	OMIM:173900	J:43193 , J:52573 , J:72627

Genotype
MGI:3771707

ht4

• Allelic Composition: Pkd1^tm1.2Djmp/Pkd1⁺
• Genetic Background: involves: 129P2/OlaHsd * FVB/N

renal/urinary system

increased kidney cell proliferation ( J:130079 )

• mice exhibit a higher proliferation index for precystic tubular epithelial cells than wild-type mice

cellular

increased kidney cell proliferation ( J:130079 )

• mice exhibit a higher proliferation index for precystic tubular epithelial cells than wild-type mice

Genotype
MGI:3776498

ht5

• 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:2173244

ht6

• Allelic Composition: Pkd1^tm1Rsa/Pkd1⁺
• Genetic Background: involves: 129S4/SvJaeSor

Renal cysts in embryonic and adult kidneys of Pkd1^tm1Rsa/Pkd1⁺ mice

renal/urinary system

kidney cyst ( J:72238 )

• microscopic cysts are seen throughout the nephron in about 50% of heterozygotes before 9 months of age and are detected as early as 3 months of age

• macroscopic cysts are occasionally seen in heterozygotes from 4 to 19 months of age

• cysts are often lined with hyperplastic or apoptotic cells

liver/biliary system

liver cyst ( J:72238 )

• liver cysts are occasionally seen in heterozygotes from 19 months of age

growth/size/body

kidney cyst ( J:72238 )

• microscopic cysts are seen throughout the nephron in about 50% of heterozygotes before 9 months of age and are detected as early as 3 months of age

• macroscopic cysts are occasionally seen in heterozygotes from 4 to 19 months of age

• cysts are often lined with hyperplastic or apoptotic cells

liver cyst ( J:72238 )

• liver cysts are occasionally seen in heterozygotes from 19 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 1		DOID:0110858	OMIM:173900	J:72238

Genotype
MGI:3795607

ht7

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

renal/urinary system

kidney cyst ( J:78422 )

• one gross kidney cyst is observed at 12 months of age

growth/size/body

kidney cyst ( J:78422 )

• one gross kidney cyst is observed at 12 months of age

Genotype
MGI:5442321

cn8

• Allelic Composition: Pkd1^tm1Som/Pkd1⁺; Sec63^tm1Som/Sec63^tm1Som; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL

renal/urinary system

increased kidney apoptosis ( J:188763 )

• increased apoptosis in cysts compared to in cysts from Sec63^tm1Som/Sec63^tm1Som Tg(Cdh16-cre)91Igr mice

increased kidney cell proliferation ( J:188763 )

• increased cell proliferation in cysts compared to in cysts from Sec63^tm1Som/Sec63^tm1Som Tg(Cdh16-cre)91Igr mice

kidney cyst ( J:188763 )

• more severe than in Sec63^tm1Som/Sec63^tm1Som Tg(Cdh16-cre)91Igr mice

• collecting duct forms larger cysts than in Sec63^tm1Som/Sec63^tm1Som Tg(Cdh16-cre)91Igr mice

• cysts exhibit increased proliferation and apoptosis compared with cysts from Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

increased kidney weight ( J:188763 )

dilated kidney collecting duct ( J:188763 )

abnormal loop of Henle ascending limb thick segment morphology ( J:188763 )

• dilated to a lesser extent than collecting tubules

cellular

increased kidney apoptosis ( J:188763 )

• increased apoptosis in cysts compared to in cysts from Sec63^tm1Som/Sec63^tm1Som Tg(Cdh16-cre)91Igr mice

increased kidney cell proliferation ( J:188763 )

• increased cell proliferation in cysts compared to in cysts from Sec63^tm1Som/Sec63^tm1Som Tg(Cdh16-cre)91Igr mice

homeostasis/metabolism

increased blood urea nitrogen level ( J:188763 )

growth/size/body

kidney cyst ( J:188763 )

• more severe than in Sec63^tm1Som/Sec63^tm1Som Tg(Cdh16-cre)91Igr mice

• collecting duct forms larger cysts than in Sec63^tm1Som/Sec63^tm1Som Tg(Cdh16-cre)91Igr mice

• cysts exhibit increased proliferation and apoptosis compared with cysts from Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

increased kidney weight ( J:188763 )

Genotype
MGI:5442311

cn9

• Allelic Composition: Pkd1^tm1Som/Pkd1⁺; Prkcsh^tm1Som/Prkcsh^tm1Som; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL

renal/urinary system

increased kidney apoptosis ( J:188763 )

• increased apoptosis in cysts compared to in cysts from Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

increased kidney cell proliferation ( J:188763 )

• increased cell proliferation in cysts compared to in cysts from Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

kidney cyst ( J:188763 )

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

• collecting ducts form larger cysts than in Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

• cysts exhibit increased proliferation and apoptosis compared with cysts from Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

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

• however, expression of Tg(Pdk1)248Som or treatment with carfilzomib rescues cystic kidney phenotype

increased kidney weight ( J:188763 )

dilated kidney collecting duct ( J:188763 )

abnormal loop of Henle ascending limb thick segment morphology ( J:188763 )

• dilated to a lesser extent than collecting tubules

cellular

increased kidney apoptosis ( J:188763 )

• increased apoptosis in cysts compared to in cysts from Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

increased kidney cell proliferation ( J:188763 )

• increased cell proliferation in cysts compared to in cysts from Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

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

• collecting ducts form larger cysts than in Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

• cysts exhibit increased proliferation and apoptosis compared with cysts from Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr mice

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

• however, expression of Tg(Pdk1)248Som or treatment with carfilzomib rescues cystic kidney phenotype

increased kidney weight ( J:188763 )

Genotype
MGI:6392326

cn10

• Allelic Composition: Pkd1^tm2Ggg/Pkd1⁺; Tg(Pax8-rtTA2S*M2)1Koes/0; Tg(tetO-cre)1Jaw/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * C57BL/6N * DBA * SJL

renal/urinary system

renal/urinary system phenotype ( J:284006 )

N • mice treated with doxycycline (Dox) at P0 and analyzed at P14 do not form kidney cysts

Genotype
MGI:6392322

cn11

• Allelic Composition: Tulp3^{tm1c(EUCOMM)Hmgu}/Tulp3^{tm1c(EUCOMM)Hmgu}; Pkd1^tm2Ggg/Pkd1⁺; Tg(Pax8-rtTA2S*M2)1Koes/0; Tg(tetO-cre)1Jaw/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * C57BL/6N * DBA * SJL

renal/urinary system

polycystic kidney ( J:284006 )

• mice treated with doxycycline (Dox) at P0 and analyzed at P14 show development of kidney cysts, with increased kidney weight/body weight ratio and more numerous and larger cysts than single conditional Tulp3 homozygotes

• however, mice treated with Dox at P28 and analyzed at 18 weeks of age show amelioration of the cystic phenotype with no difference in cystic index

increased kidney weight ( J:284006 )

• mice treated with doxycycline (Dox) at P0 and analyzed at P14 show increased kidney weight/body weight ratio due to cysts

• mice treated with Dox at P28 for 2 weeks and analyzed at 18 weeks of age show a modest elevation of kidney weight/body weight ratio

dilated renal tubule ( J:284006 )

• mice treated with Dox at P28 for 2 weeks and analyzed at 18 weeks of age show larger tubule dilations

homeostasis/metabolism

increased blood urea nitrogen level ( J:284006 )

• mice treated with Dox at P0 show elevated blood urea nitrogen levels

• however, mice treated with Dox at P28 and analyzed at 18 weeks of age show no differences in blood urea nitrogen levels

growth/size/body

polycystic kidney ( J:284006 )

• mice treated with doxycycline (Dox) at P0 and analyzed at P14 show development of kidney cysts, with increased kidney weight/body weight ratio and more numerous and larger cysts than single conditional Tulp3 homozygotes

• however, mice treated with Dox at P28 and analyzed at 18 weeks of age show amelioration of the cystic phenotype with no difference in cystic index

increased kidney weight ( J:284006 )

• mice treated with doxycycline (Dox) at P0 and analyzed at P14 show increased kidney weight/body weight ratio due to cysts

• mice treated with Dox at P28 for 2 weeks and analyzed at 18 weeks of age show a modest elevation of kidney weight/body weight ratio

Genotype
MGI:5502424

cn12

• Allelic Composition: Pkd1^tm2Ggg/Pkd1⁺; Tg(Col1a1-cre)1Bek/0
• Genetic Background: involves: 129S4/SvJae * CD-1

Decrease in trabecular and cortical bone in adult Pkd1^tm2Ggg/Pkd1⁺ Tg(Col1a1-cre)1Bek/0 and Pkd1^tm2Ggg/Pkd1^tm2Ggg Tg(Col1a1-cre)1Bek/0 mice

skeleton

impaired osteoblast differentiation ( J:191967 )

• osteoblasts show impaired differentiation and maturation, as shown by culture duration-dependent reductions in ALP activity, diminished calcium deposition in extracellular matrix and a reduction in osteoblastic differentiation markers

increased osteoblast proliferation ( J:191967 )

• primary calvarial osteoblasts exhibit an increase in BrdU incorporation

decreased bone mineral density ( J:191967 )

• bone mineral density is reduced by 21-22% in both males and females at 6 weeks of age

decreased trabecular bone volume ( J:191967 )

♂ • males show a 40% reduction in trabecular bone volume

decreased compact bone thickness ( J:191967 )

♂ • males show a 15% reduction in cortical bone thickness

decreased bone mineralization ( J:191967 )

• periosteal mineral apposition rate is reduced by 19%

cellular

impaired osteoblast differentiation ( J:191967 )

• osteoblasts show impaired differentiation and maturation, as shown by culture duration-dependent reductions in ALP activity, diminished calcium deposition in extracellular matrix and a reduction in osteoblastic differentiation markers

increased osteoblast proliferation ( J:191967 )

• primary calvarial osteoblasts exhibit an increase in BrdU incorporation

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:191967 )

N • pancreatic cysts are not observed in embryos or at 6 weeks of age

renal/urinary system

renal/urinary system phenotype ( J:191967 )

N • kidney cysts are not observed in embryos or at 6 weeks of age

Genotype
MGI:5697046

cx13

• Allelic Composition: Pkd1^tm1.1Pcha/Pkd1⁺; Pkd2^tm1Som/Pkd2^tm2Som
• Genetic Background: involves: 129 * C57BL/6J * SJL

renal/urinary system

polycystic kidney ( J:220561 )

• mice show a similar level of polycystic kidney disease as single Pkd1^tm1.1Pcha homozygotes

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 a similar level of polycystic kidney disease as single Pkd1^tm1.1Pcha homozygotes

increased kidney weight ( J:220561 )

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

Genotype
MGI:3776501

cx14

• 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

Genotype
MGI:3759226

cx15

• Allelic Composition: Pkd1^tm1Ggg/Pkd1⁺; Pkhd1^tm1.1Ggg/Pkhd1^tm1.1Ggg
• Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6

mortality/aging

premature death ( J:125113 )

• all mice die by 9 months of age

perinatal lethality, incomplete penetrance ( J:125113 )

• survival rate of pups is 41.24%

renal/urinary system

kidney cyst ( J:125113 )

• mice exhibit macroscopic cysts derived from the distal tubules and collecting ducts and thick ascending loop of Henle by 3 months of age

enlarged kidney ( J:125113 )

• by 3 months of age, all mice display enlarged kidneys with macroscopic cysts in a pattern that is similar to late-stage kidney disease in Pkhd1^tm1.1Ggg homozygotes

• kidney volume is enlarged by more than 50% of that observed in the oldest, severely affected Pkhd1^tm1.1Ggg homozygotes

dilated kidney collecting duct ( J:125113 )

• kidney collecting ducts are dilated in a large proportion of mice at birth

liver/biliary system

abnormal liver morphology ( J:125113 )

• hepatic abnormalities are more severe and develop at a younger age than in Pkhd1^tm1.1Ggg homozygotes

liver cyst ( J:125113 )

• liver cysts with fibrosis are often present on the first day after birth

growth/size/body

pancreas cyst ( J:125113 )

• pancreatic cysts are more severe and develop at a younger age than in Pkhd1^tm1.1Ggg homozygotes

• pancreatic cysts with fibrosis are often present on the first day after birth

kidney cyst ( J:125113 )

• mice exhibit macroscopic cysts derived from the distal tubules and collecting ducts and thick ascending loop of Henle by 3 months of age

liver cyst ( J:125113 )

• liver cysts with fibrosis are often present on the first day after birth

postnatal growth retardation ( J:125113 )

• growth retardation is more severe and develops at a younger age than in Pkhd1^tm1.1Ggg homozygotes

enlarged kidney ( J:125113 )

• by 3 months of age, all mice display enlarged kidneys with macroscopic cysts in a pattern that is similar to late-stage kidney disease in Pkhd1^tm1.1Ggg homozygotes

• kidney volume is enlarged by more than 50% of that observed in the oldest, severely affected Pkhd1^tm1.1Ggg homozygotes

endocrine/exocrine glands

pancreas cyst ( J:125113 )

• pancreatic cysts are more severe and develop at a younger age than in Pkhd1^tm1.1Ggg homozygotes

• pancreatic cysts with fibrosis are often present on the first day after birth

Genotype
MGI:5546346

cx16

• Allelic Composition: Pkd1^tm1Som/Pkd1⁺; Tg(Pkd1*)39Mtru/0
• Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J * SJL

renal/urinary system

polycystic kidney ( J:198147 )

• kidneys exhibit tubular and glomerular cysts in late adulthood similar to single Tg(Pkd1*)39Mtru mice

dilated renal tubule ( J:198147 )

• general tubular dilatations

growth/size/body

polycystic kidney ( J:198147 )

• kidneys exhibit tubular and glomerular cysts in late adulthood similar to single Tg(Pkd1*)39Mtru mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 1		DOID:0110858	OMIM:173900	J:198147

Genotype
MGI:3795605

cx17

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

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