All Phenotypes Pkd1<tm2Ggg> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Pkd1^tm2Ggg
targeted mutation 2, Gregory G Germino
MGI:3612341

Summary

15 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Pkd1^tm2Ggg/Pkd1^tm2Ggg Gt(ROSA)26Sor^{tm1(cre/ERT)Nat}/Gt(ROSA)26Sor⁺	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6	MGI:5587037
cn2	Pkd1^tm1Ggg/Pkd1^tm2Ggg Meox2^tm1(cre)Sor/Meox2⁺	involves: 129S4/SvJae * 129S4/SvJaeSor	MGI:4843170
cn3	Pkd1^tm2Ggg/Pkd1^tm2Ggg Tg(Hoxb7-cre)13Amc/0	involves: 129S4/SvJae * C57BL/6	MGI:6188648
cn4	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
cn5	Tulp3^{tm1c(EUCOMM)Hmgu}/Tulp3^{tm1c(EUCOMM)Hmgu} Pkd1^tm2Ggg/Pkd1^tm2Ggg Tg(Pax8-rtTA2S*M2)1Koes/0 Tg(tetO-cre)1Jaw/0	involves: 129S4/SvJae * C57BL/6 * C57BL/6N * DBA * SJL	MGI:6392333
cn6	Tulp3^{tm1c(EUCOMM)Hmgu}/Tulp3⁺ Pkd1^tm2Ggg/Pkd1^tm2Ggg Tg(Pax8-rtTA2S*M2)1Koes/0 Tg(tetO-cre)1Jaw/0	involves: 129S4/SvJae * C57BL/6 * C57BL/6N * DBA * SJL	MGI:6392330
cn7	Pkd1^tm2Ggg/Pkd1^tm2Ggg Tg(Pax8-rtTA2S*M2)1Koes/0 Tg(tetO-cre)1Jaw/0	involves: 129S4/SvJae * C57BL/6 * C57BL/6N * DBA * SJL	MGI:6392328
cn8	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
cn9	Pkd1^tm2Ggg/Pkd1^tm2Ggg Tg(Nes-cre)Wme/0	involves: 129S4/SvJae * C57BL/6 * CBA	MGI:5430604
cn10	Hoxb3os^em1Kabo/Hoxb3os^em1Kabo Pkd1^tm2Ggg/Pkd1^tm2Ggg Tg(Pkhd1-cre)1Igr/0	involves: 129S4/SvJae * C57BL/6J	MGI:7612601
cn11	Pkd1^tm1Ggg/Pkd1^tm2Ggg Tg(Tek-cre)1Ywa/0	involves: 129S4/SvJae * C57BL/6 * SJL	MGI:4843167
cn12	Pkd1^tm2Ggg/Pkd1⁺ Tg(Col1a1-cre)1Bek/0	involves: 129S4/SvJae * CD-1	MGI:5502424
cn13	Pkd1^tm1Ggg/Pkd1^tm2Ggg Tg(Col1a1-cre)1Bek/0	involves: 129S4/SvJae * CD-1	MGI:5502422
cn14	Pkd1^tm2Ggg/Pkd1^tm2Ggg Tg(Col1a1-cre)1Bek/0	involves: 129S4/SvJae * CD-1	MGI:5502373
cn15	Pkd1^tm2Ggg/Pkd1^tm2Ggg Tg(MMTV-cre)4Mam/0	involves: 129S4/SvJae * FVB	MGI:3617392

Allelic Composition	Pkd1^tm2Ggg/Pkd1^tm2Ggg Gt(ROSA)26Sor^{tm1(cre/ERT)Nat}/Gt(ROSA)26Sor⁺
Genetic Background	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^{tm1(cre/ERT)Nat} mutation (3 available); any Gt(ROSA)26Sor mutation (1046 available)
Pkd1^tm2Ggg mutation (1 available); any Pkd1 mutation (153 available)

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

renal/urinary system

increased kidney weight ( J:213263 )

• pups from nursing mothers that were injected with tamoxifen to induce Pkd1 deletion in pups, show an increase in the ratio of percent kidney weight to body weight at P23

growth/size/body

increased kidney weight ( J:213263 )

• pups from nursing mothers that were injected with tamoxifen to induce Pkd1 deletion in pups, show an increase in the ratio of percent kidney weight to body weight at P23

Allelic Composition	Pkd1^tm1Ggg/Pkd1^tm2Ggg Meox2^tm1(cre)Sor/Meox2⁺
Genetic Background	involves: 129S4/SvJae * 129S4/SvJaeSor

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Meox2^tm1(cre)Sor mutation (3 available); any Meox2 mutation (21 available)
Pkd1^tm1Ggg mutation (0 available); any Pkd1 mutation (153 available)
Pkd1^tm2Ggg mutation (1 available); any Pkd1 mutation (153 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:165114 )

• mice that are born alive die shortly after birth

lethality throughout fetal growth and development, incomplete penetrance ( J:165114 )

• fewer than expected mice survive to birth but more than in Pkd1^tm1Ggg homozygotes

embryo

abnormal placenta morphology ( J:165114 )

• placental abnormalities observed in Pkd1^tm1Ggg homozygotes are partially rescued

abnormal placenta vasculature ( J:165114 )

• some mice exhibit fewer fetal vessels and more dilated vascular spaces in the placenta compared with wild-type mice

• on average, fetal vessel density in the placenta is decreased compared to in wild-type mice

homeostasis/metabolism

edema ( J:165114 )

polyhydramnios ( J:165114 )

renal/urinary system

kidney cyst ( J:165114 )

respiratory system

respiratory failure ( J:165114 )

cardiovascular system

cardiovascular system phenotype ( J:165114 )

N	• edematous mice exhibit normal heart morphology

abnormal placenta vasculature ( J:165114 )

• some mice exhibit fewer fetal vessels and more dilated vascular spaces in the placenta compared with wild-type mice

• on average, fetal vessel density in the placenta is decreased compared to in wild-type mice

growth/size/body

kidney cyst ( J:165114 )

Allelic Composition	Pkd1^tm2Ggg/Pkd1^tm2Ggg Tg(Hoxb7-cre)13Amc/0
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1^tm2Ggg mutation (1 available); any Pkd1 mutation (153 available)
Tg(Hoxb7-cre)13Amc mutation (2 available)

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

renal/urinary system

increased kidney apoptosis ( J:171619 )

• apoptosis is increased in kidneys in P7 and P15 mice

increased kidney cell proliferation ( J:171619 )

• cell proliferation is increased in kidneys in both early and late stage of cystogenesis

polycystic kidney ( J:171619 )

• by P15, mice present with huge bilateral masses on their flanks and kidneys are grossly cystic with very little normal renal parenchyma

• newborn mice exhibit microscopic kidney cysts derived from both cortical and medullary collecting ducts

• P7 kidneys have more and larger cysts, with less parenchyma compared to those in newborns

• early and late stage of cystogenesis is associated with increased cell proliferation and increased Cux1 expression while late stage cystogenesis is associated with increased apoptosis and increased Cux1 expression

cellular

increased kidney apoptosis ( J:171619 )

• apoptosis is increased in kidneys in P7 and P15 mice

increased kidney cell proliferation ( J:171619 )

• cell proliferation is increased in kidneys in both early and late stage of cystogenesis

homeostasis/metabolism

increased blood urea nitrogen level ( J:171619 )

• BUN levels are increased at P7 and P15

growth/size/body

polycystic kidney ( J:171619 )

• newborn mice exhibit microscopic kidney cysts derived from both cortical and medullary collecting ducts

• P7 kidneys have more and larger cysts, with less parenchyma compared to those in newborns

• by P15, mice present with huge bilateral masses on their flanks and kidneys are grossly cystic with very little normal renal parenchyma

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 1		DOID:0110858	OMIM:173900	J:171619

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1^tm2Ggg mutation (1 available); any Pkd1 mutation (153 available)
Tg(Pax8-rtTA2S*M2)1Koes mutation (4 available)
Tg(tetO-cre)1Jaw mutation (7 available)
Tulp3^{tm1c(EUCOMM)Hmgu} mutation (2 available); any Tulp3 mutation (52 available)

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

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 )

• 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

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

Find Mice

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

renal/urinary system

polycystic kidney ( J:284006 )

• mice treated with doxycycline (Dox) at P0 and analyzed at P14 exhibit a severe cystic phenotype

• 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 exhibit increased kidney weight/body weight ratio due to cysts

• however, mice treated with Dox at P28 for 2 weeks and analyzed at 18 weeks of age show no differences in kidney weight/body weight ratio

homeostasis/metabolism

increased blood urea nitrogen level ( J:284006 )

• mice treated with Dox at P0 show increased blood urea nitrogen levels at P14

• 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 exhibit a severe cystic phenotype

• 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 exhibit increased kidney weight/body weight ratio due to cysts

• however, mice treated with Dox at P28 for 2 weeks and analyzed at 18 weeks of age show no differences in kidney weight/body weight ratio

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

Find Mice

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

renal/urinary system

polycystic kidney ( J:284006 )

• mice treated with doxycycline (Dox) at P0 and analyzed at P14 exhibit a severe cystic phenotype

• mice treated with Dox a P28 for 2 weeks and analyzed at 18 weeks show an intermediate cystic phenotype, with cystic index lower than conditional Pkd1 homozygotes but higher than in double Tulp3 and Pkd1 homozygotes

increased kidney weight ( J:284006 )

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

• mice treated with Dox a P28 for 2 weeks and analyzed at 18 weeks show an intermediate kidney weight/body weight ratio, with lower ratio than conditional Pkd1 homozygotes but higher ratio than in double Tulp3 and Pkd1 homozygotes

homeostasis/metabolism

increased blood urea nitrogen level ( J:284006 )

• mice treated with Dox at P0 show increased blood urea nitrogen levels at P14

• mice treated with Dox a P28 for 2 weeks and analyzed at 18 weeks show an intermediate level of blood urea nitrogen, with lower level than conditional Pkd1 homozygotes but higher level than in double Tulp3 and Pkd1 homozygotes

growth/size/body

polycystic kidney ( J:284006 )

• mice treated with doxycycline (Dox) at P0 and analyzed at P14 exhibit a severe cystic phenotype

increased kidney weight ( J:284006 )

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

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

Find Mice

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

renal/urinary system

polycystic kidney ( J:284006 )

• mice treated with Dox at P0 and analyzed at P14 exhibit a severe cystic phenotype

• mice treated with Dox at P28 for 2 weeks and analyzed at 18 weeks develop severe cystic kidneys

increased kidney weight ( J:284006 )

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

• mice treated with Dox at P28 for 2 weeks and analyzed at 18 weeks exhibit increased kidney weight/body weight ratio due to cysts

homeostasis/metabolism

increased blood urea nitrogen level ( J:284006 )

• mice treated with Dox at P0 show increased blood urea nitrogen levels at P14

• mice treated with Dox at P28 for 2 weeks show increased blood urea nitrogen levels at 18 weeks of age

growth/size/body

polycystic kidney ( J:284006 )

• mice treated with Dox at P0 and analyzed at P14 exhibit a severe cystic phenotype

• mice treated with Dox at P28 for 2 weeks and analyzed at 18 weeks develop severe cystic kidneys

increased kidney weight ( J:284006 )

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

• mice treated with Dox at P28 for 2 weeks and analyzed at 18 weeks exhibit increased kidney weight/body weight ratio due to cysts

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

Find Mice

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

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

Allelic Composition	Pkd1^tm2Ggg/Pkd1^tm2Ggg Tg(Nes-cre)Wme/0
Genetic Background	involves: 129S4/SvJae * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1^tm2Ggg mutation (1 available); any Pkd1 mutation (153 available)
Tg(Nes-cre)Wme mutation (0 available)

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

renal/urinary system

increased kidney apoptosis ( J:185855 )

• cyst-lining epithelial cells are highly apoptotic

increased kidney cell proliferation ( J:185855 )

• cyst-lining epithelial cells are highly proliferative

• -morphologically normal tubules and interstitial cells exhibit increased proliferation

abnormal kidney morphology ( J:185855 )

• kidneys show extensive deposition of collagen

kidney cyst ( J:185855 )

• mutants develop renal cysts by 49 days of age

• renal cysts arise predominately from collecting duct/distal tubules

• mutants treated with rapamycin exhibit an inhibition of renal cyst growth, a decrease in plasma blood urea nitrogen, fibrosis, and proliferation of cystic cells but show an increases cystic cell apoptosis (but not in normal tubule epithelial cells)

enlarged kidney ( J:185855 )

• kidneys are enlarged in 49 day old mutants

renal fibrosis ( J:185855 )

homeostasis/metabolism

increased blood urea nitrogen level ( J:185855 )

• mutants exhibit highly elevated blood urea nitrogen

cellular

increased kidney apoptosis ( J:185855 )

• cyst-lining epithelial cells are highly apoptotic

increased kidney cell proliferation ( J:185855 )

• cyst-lining epithelial cells are highly proliferative

• -morphologically normal tubules and interstitial cells exhibit increased proliferation

growth/size/body

kidney cyst ( J:185855 )

• mutants develop renal cysts by 49 days of age

• renal cysts arise predominately from collecting duct/distal tubules

enlarged kidney ( J:185855 )

• kidneys are enlarged in 49 day old mutants

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 1		DOID:0110858	OMIM:173900	J:185855

Allelic Composition	Hoxb3os^em1Kabo/Hoxb3os^em1Kabo Pkd1^tm2Ggg/Pkd1^tm2Ggg Tg(Pkhd1-cre)1Igr/0
Genetic Background	involves: 129S4/SvJae * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hoxb3os^em1Kabo mutation (0 available); any Hoxb3os mutation (3 available)
Pkd1^tm2Ggg mutation (1 available); any Pkd1 mutation (153 available)
Tg(Pkhd1-cre)1Igr mutation (0 available)

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

renal/urinary system

increased kidney cell proliferation ( J:345935 )

• percentage of Ki67+ cells is increased by 52% in kidneys, indicating increased cell proliferation

kidney cyst ( J:345935 )

• mice exhibit exacerbated cyst growth in kidneys compared to single Pdk1 homozygotes, with a 64% increase in cyst index, 52% increase in cyst number, and 74% increase in kidney weight/body weight ratio

cellular

increased kidney cell proliferation ( J:345935 )

• percentage of Ki67+ cells is increased by 52% in kidneys, indicating increased cell proliferation

growth/size/body

kidney cyst ( J:345935 )

Allelic Composition	Pkd1^tm1Ggg/Pkd1^tm2Ggg Tg(Tek-cre)1Ywa/0
Genetic Background	involves: 129S4/SvJae * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1^tm1Ggg mutation (0 available); any Pkd1 mutation (153 available)
Pkd1^tm2Ggg mutation (1 available); any Pkd1 mutation (153 available)
Tg(Tek-cre)1Ywa mutation (7 available)

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:165114 )

• despite Mendelian ratios at E18.5, fewer than expected live born mice are observed

embryo

abnormal placenta vasculature ( J:165114 )

• mice exhibit dilation of maternal vasculature in the placenta unlike in wild-type mice

• fewer fetal vessels and investing pericytes are present in the placenta compared to in wild-type mice

• fewer branched placental vessels are observed compared to in wild-type mice

• however, placental layer size is normal

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:165114 )

N	• unlike in null mice, no edema is observed

polyhydramnios ( J:165114 )

cardiovascular system

abnormal placenta vasculature ( J:165114 )

• mice exhibit dilation of maternal vasculature in the placenta unlike in wild-type mice

• fewer fetal vessels and investing pericytes are present in the placenta compared to in wild-type mice

• fewer branched placental vessels are observed compared to in wild-type mice

• however, placental layer size is normal

hemorrhage ( J:165114 )

• in a small fraction of mice

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1^tm2Ggg mutation (1 available); any Pkd1 mutation (153 available)
Tg(Col1a1-cre)1Bek mutation (1 available)

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

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 )

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

Allelic Composition	Pkd1^tm1Ggg/Pkd1^tm2Ggg Tg(Col1a1-cre)1Bek/0
Genetic Background	involves: 129S4/SvJae * CD-1

Find Mice

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

Osteopenia in newborn Pkd1^tm1Ggg/Pkd1^tm2Ggg Tg(Col1a1-cre)1Bek/0 mice

mortality/aging

perinatal lethality ( J:191967 )

limbs/digits/tail

short femur ( J:191967 )

• newborns have short and less mineralized femurs

skeleton

short femur ( J:191967 )

• newborns have short and less mineralized femurs

decreased bone mineral density ( J:191967 )

• osteopenia is seen in newborns

decreased trabecular bone volume ( J:191967 )

• in newborns

decreased compact bone thickness ( J:191967 )

• in newborns

abnormal bone mineralization ( J:191967 )

• newborns show a delay in bone mineralization in calvarial and vertebral bone tissues

• bone phenotype is more severe than in Pkd1^tm1Ggg/Pkd1^tm1Ggg Tg(Col1a1-cre)1Bek/0 mice

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1^tm2Ggg mutation (1 available); any Pkd1 mutation (153 available)
Tg(Col1a1-cre)1Bek mutation (1 available)

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

Pkd1^tm2Ggg/Pkd1^tm2Ggg Tg(Col1a1-cre)1Bek/0 mice develop polycystic pancreas and kidney

mortality/aging

premature death ( J:191967 )

• 50% mortality rate between birth and 6 months of age

postnatal lethality, incomplete penetrance ( J:191967 )

• 50% mortality rate between birth and 6 months of age

growth/size/body

pancreas cyst ( J:191967 )

• pancreatic cysts first become apparent at E15.5 and severe multiple cysts are seen by 6 weeks of age

• however, endocrine islet formation in pancreas is unaffected

polycystic kidney ( J:191967 )

• renal tubule cysts first become apparent at E15.5 and severe multiple cysts in the kidney are seen by 6 weeks of age

• however, glomeruli formation in the kidney is unaffected

decreased body size ( J:191967 )

decreased body weight ( J:191967 )

• at 6 weeks of age

renal/urinary system

polycystic kidney ( J:191967 )

• renal tubule cysts first become apparent at E15.5 and severe multiple cysts in the kidney are seen by 6 weeks of age

• however, glomeruli formation in the kidney is unaffected

renal fibrosis ( J:191967 )

• renal fibrosis of polycystic kidney starts at P7 and progressively becomes more severe by 6 weeks of age

endocrine/exocrine glands

abnormal exocrine pancreas morphology ( J:191967 )

• formation of pancreatic cysts lead to expansion of the pancreatic ducts and leads to massive acinar cell loss, formation of abnormal tubular structures, and appearance of endocrine cells in ducts

pancreas cyst ( J:191967 )

• pancreatic cysts first become apparent at E15.5 and severe multiple cysts are seen by 6 weeks of age

• however, endocrine islet formation in pancreas is unaffected

skeleton

abnormal osteoblast differentiation ( J:191967 )

increased osteoblast proliferation ( J:191967 )

• primary calvarial osteoblasts exhibit an increase in BrdU incorporation

short femur ( J:191967 )

• 17% shorter in length

abnormal bone marrow morphology ( J:191967 )

• number of adipocytes and fat droplets in tibia bone marrow are increased in 6 week old mutants

decreased bone mineral density ( J:191967 )

• adults exhibit severe osteopenia, with bone mineral density reduced by 35% and 36% in adult males and females, respectively

• however, newborns do not have skeletal abnormalities

decreased trabecular bone volume ( J:191967 )

• 73% reduction in trabecular bone volume

decreased compact bone thickness ( J:191967 )

• 41% reduction in cortical bone thickness

decreased bone mineralization ( J:191967 )

• periosteal mineral apposition rate is reduced by 41%

adipose tissue

abnormal adipose tissue development ( J:191967 )

• increase in adipogenesis in bone marrow and in bone marrow stromal cultures; higher number of adipocytes and volume of fat droplets in tibias

digestive/alimentary system

abnormal exocrine pancreas morphology ( J:191967 )

• formation of pancreatic cysts lead to expansion of the pancreatic ducts and leads to massive acinar cell loss, formation of abnormal tubular structures, and appearance of endocrine cells in ducts

cellular

abnormal osteoblast differentiation ( J:191967 )

increased osteoblast proliferation ( J:191967 )

• primary calvarial osteoblasts exhibit an increase in BrdU incorporation

homeostasis/metabolism

increased blood urea nitrogen level ( J:191967 )

• at 6 weeks of age

increased circulating parathyroid hormone level ( J:191967 )

• at 6 weeks of age

abnormal circulating mineral level ( J:191967 )

• levels of serum phosphorus are lower at 6 weeks of age

limbs/digits/tail

short femur ( J:191967 )

• 17% shorter in length

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 1		DOID:0110858	OMIM:173900	J:191967

Allelic Composition	Pkd1^tm2Ggg/Pkd1^tm2Ggg Tg(MMTV-cre)4Mam/0
Genetic Background	involves: 129S4/SvJae * FVB

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1^tm2Ggg mutation (1 available); any Pkd1 mutation (153 available)
Tg(MMTV-cre)4Mam mutation (2 available)

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

renal/urinary system

kidney cyst ( J:103719 )

• 60% exhibit an occasional cyst on the surface of the kidney at 10 weeks of age and 100% have kidney cysts at 20 weeks of age

liver/biliary system

liver cyst ( J:103719 )

• 20% exhibit an occasional cyst on the surface of the liver at 10 weeks of age and 100% have multiple hepatic cysts at 20 weeks of age

growth/size/body

kidney cyst ( J:103719 )

• 60% exhibit an occasional cyst on the surface of the kidney at 10 weeks of age and 100% have kidney cysts at 20 weeks of age

liver cyst ( J:103719 )

• 20% exhibit an occasional cyst on the surface of the liver at 10 weeks of age and 100% have multiple hepatic cysts at 20 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease 1		DOID:0110858	OMIM:173900	J:103719

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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