Phenotypes associated with this allele

• Allele Symbol: Tg(Cdh16-cre)91Igr
• Allele Name: transgene insertion 91, Peter Igarashi
• Allele ID: MGI:2665300
• Summary: 52 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Abcc6^tm1c(EUCOMM)Wtsi/Abcc6^tm1c(EUCOMM)Wtsi Tg(Cdh16-cre)91Igr/?	B6.Cg-Abcc6^tm1c(EUCOMM)Wtsi Tg(Cdh16-cre)91Igr	MGI:6241512
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	Pkd1^tm1.1Pcha/Pkd1^tm2Som Tg(Cdh16-cre)91Igr/0	involves: 129 * 129S4/SvJae * C57BL/6 * ICR	MGI:6317334
cn4	Mirc1^tm1.1Tyj/Mirc1^tm1.1Tyj Pkd1^tm1.1Pcha/Pkd1^tm1.1Pcha Tg(Cdh16-cre)91Igr/0	involves: 129 * 129S4/SvJae * C57BL/6 * ICR	MGI:6317339
cn5	Pkd2^tm2Som/Pkd2^+ Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr/0	involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL	MGI:5442313
cn6	Pkd1^tm1Som/Pkd1^+ Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr/0	involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL	MGI:5442311
cn7	Pkd2^tm2Som/Pkd2^+ Sec63^tm1Som/Sec63^tm1Som Tg(Cdh16-cre)91Igr/0	involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL	MGI:5442322
cn8	Pkd1^tm1Som/Pkd1^+ Sec63^tm1Som/Sec63^tm1Som Tg(Cdh16-cre)91Igr/0	involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL	MGI:5442321
cn9	Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Pkd1)248Som/0 Tg(Cdh16-cre)91Igr/0	involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL/J	MGI:5442310
cn10	Sec63^tm1Som/Sec63^tm1Som Tg(Pkd1)248Som/0 Tg(Cdh16-cre)91Igr/0	involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL/J	MGI:5442320
cn11	Prkcsh^tm1Som/Prkcsh^tm1Som Sec63^tm1.1Som/Sec63^tm1.1Som Tg(Cdh16-cre)91Igr/0	involves: 129 * C57BL/6 * ICR	MGI:5442317
cn12	Sec63^tm1Som/Sec63^tm1Som Tg(Cdh16-cre)91Igr/0	involves: 129 * C57BL/6 * ICR	MGI:5442319
cn13	Prkcsh^tm1Som/Prkcsh^tm1Som Tg(Cdh16-cre)91Igr/0	involves: 129 * C57BL/6 * ICR	MGI:5442308
cn14	Bbs10^tm1.1Vmar/Bbs10^tm1.1Vmar Tg(Cdh16-cre)91Igr/0	involves: 129P2/OlaHsd * C57BL/6	MGI:5792867
cn15	Trp53^tm1Brn/Trp53^tm1Brn Tg(Cdh16-cre)91Igr/0	involves: 129P2/OlaHsd * C57BL/6J * FVB/N * ICR	MGI:5604728
cn16	Col1a1^tm2(tetO-LIN28B)Gqda/Col1a1^+ Gt(ROSA)26Sor^tm1(rtTA,EGFP)Nagy/Gt(ROSA)26Sor^+ Tg(Cdh16-cre)91Igr/0	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * ICR	MGI:5638874
cn17	Oxsr1^tm1.1Ssy/Oxsr1^tm1.1Ssy Tg(Cdh16-cre)91Igr/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * ICR	MGI:5297494
cn18	Kif3a^tm1Gsn/Kif3a^tm2Gsn Tg(Cdh16-cre)91Igr/0	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * ICR	MGI:5142310
cn19	Pten^tm1Hwu/Pten^tm1Hwu Tg(Cdh16-cre)91Igr/0	involves: 129S4/SvJae * BALB/c * C57BL/6J * ICR	MGI:4943546
cn20	Vhl^tm1Jae/Vhl^tm1Jae Tg(Cdh16-cre)91Igr/0	involves: 129S4/SvJae * BALB/c * C57BL/6J * ICR	MGI:4943542
cn21	Pten^tm1Hwu/Pten^tm1Hwu Vhl^tm1Jae/Vhl^tm1Jae Tg(Cdh16-cre)91Igr/0	involves: 129S4/SvJae * BALB/c * C57BL/6J * ICR	MGI:4943534
cn22	Mirc1^tm1.1Tyj/Mirc1^tm1.1Tyj Pkd1^tm2Som/Pkd1^tm2Som Tg(Cdh16-cre)91Igr/0	involves: 129S4/SvJae * C57BL/6 * ICR	MGI:6317328
cn23	Pkd1^tm2Som/Pkd1^tm2Som Tg(Cdh16-cre)91Igr/0	involves: 129S4/SvJae * C57BL/6 * ICR	MGI:6317327
cn24	Tg(Cdh16-cre)91Igr/0 Tg(EIF1AX-Lin28a)#Gqda/0	involves: 129S4/SvJae * C57BL/6 * ICR	MGI:5638875
cn25	Apc^tm1Tno/Apc^tm1Tno Tg(Cdh16-cre)91Igr/0	involves: 129S4/SvJae * ICR	MGI:5285852
cn26	Pten^tm1Hwu/Pten^tm1Hwu Vhl^tm1Jae/Vhl^tm1Jae Tg(Cdh16-cre)91Igr/0	involves: 129S4/SvJae * ICR	MGI:4839497
cn27	Vhl^tm1Jae/Vhl^tm1Jae Tg(Cdh16-cre)91Igr/0	involves: 129S4/SvJae * ICR	MGI:4839498
cn28	Pten^tm1Hwu/Pten^tm1Hwu Tg(Cdh16-cre)91Igr/0	involves: 129S4/SvJae * ICR	MGI:4839499
cn29	Flcn^tm1Btt/Flcn^tm1Btt Tg(Cdh16-cre)91Igr/0	involves: 129S4/SvJaeSor * C57BL/6 * ICR	MGI:3829652
cn30	Exoc5^tm1c(KOMP)Mbp/Exoc5^tm1c(KOMP)Mbp Tg(Cdh16-cre)91Igr/0	involves: 129S4/SvJaeSor * C57BL/6N * ICR	MGI:5774940
cn31	Fh1^tm1Pjp/Fh1^tm1Pjp Gt(ROSA)26Sor^tm2(CAG-FH*)Pjp/Gt(ROSA)26Sor^+ Tg(Cdh16-cre)91Igr/0	involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * C57BL/6J * ICR	MGI:5518536
cn32	Fh1^tm1Pjp/Fh1^tm1Pjp Gt(ROSA)26Sor^tm1(CAG-FH)Pjp/Gt(ROSA)26Sor^+ Tg(Cdh16-cre)91Igr/0	involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * C57BL/6J * ICR	MGI:5518535
cn33	Ano1^tm2Jrr/Ano1^tm2Jrr Tg(Cdh16-cre)91Igr/0	involves: 129S6/SvEvTac * ICR	MGI:5569648
cn34	Fh1^tm1Pjp/Fh1^tm1Pjp Tg(Cdh16-cre)91Igr/0	involves: 129X1/SvJ * ICR	MGI:3711144
cn35	Wnt9b^tm1.1Amc/Wnt9b^tm1.2Amc Tg(Cdh16-cre)91Igr/0	involves: 129X1/SvJ * ICR	MGI:5427999
cn36	Ctnnb1^tm1Mmt/Ctnnb1^+ Wnt9b^tm1.1Amc/Wnt9b^tm1.2Amc Tg(Cdh16-cre)91Igr/0	involves: 129X1/SvJ * ICR	MGI:5428001
cn37	Ctnnb1^tm1Mmt/Ctnnb1^+ Tg(Cdh16-cre)91Igr/0	involves: 129X1/SvJ * ICR	MGI:5428002
cn38	Sod2^tm1Shs/Sod2^tm1Shs Tg(Cdh16-cre)91Igr/0	involves: C57BL/6 * C57BL/6CrSlc	MGI:5432217
cn39	Sod2^tm1Shs/Sod2^+ Tg(Cdh16-cre)91Igr/0	involves: C57BL/6 * C57BL/6CrSlc	MGI:5432218
cn40	Flcn^tm1Baba/Flcn^tm1.1Lss Tg(Cdh16-cre)91Igr/0	involves: C57BL/6 * FVB/N * ICR * SJL	MGI:3776087
cn41	Flcn^tm1Baba/Flcn^tm1Baba Fnip1^tm1.1Baba/Fnip1^tm1.1Baba Fnip2^tm1.1Lss/Fnip2^tm1.1Lss Tg(Cdh16-cre)91Igr/0	involves: C57BL/6 * ICR	MGI:5897115
cn42	Fnip1^tm1.1Baba/Fnip1^tm1.1Baba Fnip2^tm1.1Lss/Fnip2^tm1.1Lss Tg(Cdh16-cre)91Igr/0	involves: C57BL/6 * ICR	MGI:5897114
cn43	Fnip2^tm1.1Lss/Fnip2^tm1.1Lss Tg(Cdh16-cre)91Igr/0	involves: C57BL/6 * ICR	MGI:5897111
cn44	Fnip1^tm1.1Baba/Fnip1^tm1.1Baba Tg(Cdh16-cre)91Igr/0	involves: C57BL/6 * ICR	MGI:5897110
cn45	Mrpl12^em1Smoc/Mrpl12^em1Smoc Tg(Cdh16-cre)91Igr/0	involves: C57BL/6 * ICR	MGI:7645364
cn46	Kl^tm1.1Tel/Kl^tm1.1Tel Tg(Cdh16-cre)91Igr/0	involves: C57BL/6 * ICR	MGI:5515392
cn47	Cldn10^tm1.1Dmu/Cldn10^tm1.1Dmu Tg(Cdh16-cre)91Igr/0	involves: C57BL/6 * ICR * SJL	MGI:5444005
cn48	Pkd1^tm2Som/Pkd1^tm2Som Tg(Cdh16-cre)91Igr/0	involves: C57BL/6 * ICR * SJL	MGI:3795670
cn49	Pkd1^tm2Som/Pkd1^tm2.1Som Tg(Cdh16-cre)91Igr/0	involves: C57BL/6 * ICR * SJL	MGI:3795669
cn50	Arl13b^tm1c(EUCOMM)Wtsi/Arl13b^tm1c(EUCOMM)Wtsi Tg(Cdh16-cre)91Igr/0	involves: C57BL/6J * C57BL/6N * ICR	MGI:6115594
cn51	Isg20^em1Cya/Isg20^em1Cya Tg(Cdh16-cre)91Igr/0	involves: C57BL/6N * ICR	MGI:7645488
cx52	Pkd1^tm1.1Pcha/Pkd1^tm1.1Pcha Tg(Cdh16-cre)91Igr/0	involves: 129 * 129S4/SvJae * C57BL/6 * ICR	MGI:6317338

Genotype
MGI:6241512

cn1

• Allelic Composition: Abcc6^{tm1c(EUCOMM)Wtsi}/Abcc6^{tm1c(EUCOMM)Wtsi}; Tg(Cdh16-cre)91Igr/?
• Genetic Background: B6.Cg-Abcc6^{tm1c(EUCOMM)Wtsi} Tg(Cdh16-cre)91Igr

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

integument

integument phenotype ( J:252837 )

N • no calcification occurs in the fibrous capsule surrounding the muzzle vibrissae

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:6317334

cn3

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

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:6317339

cn4

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

renal/urinary system

renal/urinary system phenotype ( J:244067 )

N • mice exhibit attenuated cyst growth and reduced renal fibrosis compared to single Pkd1^tm1.1Pcha homozygotes

homeostasis/metabolism

decreased blood urea nitrogen level ( J:244067 )

• mice exhibit lower blood urea nitrogen (BUN) levels compared to single Pkd1^tm1.1Pcha homozygotes

Genotype
MGI:5442313

cn5

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

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 )

Genotype
MGI:5442311

cn6

• 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:5442322

cn7

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

renal/urinary system

kidney cyst ( J:188763 )

homeostasis/metabolism

increased blood urea nitrogen level ( J:188763 )

growth/size/body

kidney cyst ( J:188763 )

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:5442310

cn9

• Allelic Composition: Prkcsh^tm1Som/Prkcsh^tm1Som; Tg(Pkd1)248Som/0; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL/J

renal/urinary system

kidney cyst ( J:188763 )

• mild at 6 months

dilated renal tubule ( J:188763 )

• mild at 6 months

growth/size/body

kidney cyst ( J:188763 )

• mild at 6 months

Genotype
MGI:5442320

cn10

• Allelic Composition: Sec63^tm1Som/Sec63^tm1Som; Tg(Pkd1)248Som/0; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL/J

renal/urinary system

kidney cyst ( J:188763 )

• mild at P45

growth/size/body

kidney cyst ( J:188763 )

• mild at P45

Genotype
MGI:5442317

cn11

• Allelic Composition: Prkcsh^tm1Som/Prkcsh^tm1Som; Sec63^tm1.1Som/Sec63^tm1.1Som; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129 * C57BL/6 * ICR

liver/biliary system

liver cyst ( J:188763 )

• more severe than in either single conditional knock-outs

growth/size/body

liver cyst ( J:188763 )

• more severe than in either single conditional knock-outs

Genotype
MGI:5442319

cn12

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

mortality/aging

premature death ( J:188763 )

• by P60 associated with kidney cysts

renal/urinary system

kidney cyst ( J:188763 )

• mild at P14, advanced at P30 and severe at P69

• collecting ducts form large cysts

• however, expression of Tg(Pdk1)248Som slows development of cystic kidney phenotype

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

homeostasis/metabolism

increased blood urea nitrogen level ( J:188763 )

growth/size/body

kidney cyst ( J:188763 )

• mild at P14, advanced at P30 and severe at P69

• collecting ducts form large cysts

• however, expression of Tg(Pdk1)248Som slows development of cystic kidney phenotype

Genotype
MGI:5442308

cn13

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

mortality/aging

premature death ( J:188763 )

• by 6 months associated with kidney cysts

renal/urinary system

kidney cyst ( J:188763 )

• mild at P28, advanced at 3 months and severe at 6 months

• collecting ducts form large cysts

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

• however, expression of Tg(Pdk1)248Som slows development of cystic kidney phenotype

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

growth/size/body

kidney cyst ( J:188763 )

• mild at P28, advanced at 3 months and severe at 6 months

• collecting ducts form large cysts

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

• however, expression of Tg(Pdk1)248Som slows development of cystic kidney phenotype

Genotype
MGI:5792867

cn14

• Allelic Composition: Bbs10^tm1.1Vmar/Bbs10^tm1.1Vmar; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

normal phenotype

no abnormal phenotype detected ( J:227230 )

• mice do not exhibit any characteristic BBS phenotypes such as obesity or retinal degeneration and show no detectable defects in renal morphology or function up to 3 months of age

Genotype
MGI:5604728

cn15

• Allelic Composition: Trp53^tm1Brn/Trp53^tm1Brn; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * FVB/N * ICR

reproductive system

increased endometrial carcinoma incidence ( J:214850 , J:215149 )

♀ • adenocarcinomas (serous and clear cell) show KPNA2 expression while endometrial intraepithelial carcinomas and endometrial glandular dysplasia foci do not exhibit KPNA2 overexpression (J:214850)

♀ • mice show endometrial alterations that progress from normal epithelium to endometrial glandular dysplasia, to endometrial intraepithelial carcinoma, and finally to a papillary adenocarcinoma (J:215149)

♀ • 16 of 19 females at 65-67 weeks of age develop endometrial tumors; three different histological subtypes of type II endometrial carcinomas, as well as carcinosarcomas, develop at high frequency (J:215149)

♀ • individual mice frequently exhibit multiple independent endometrial tumors of different histological appearances (J:215149)

♀ • adenocarcinomas with a papillary growth pattern form exclusively from the surface epithelium of the lumen, whereas those with an acinar growth pattern arise from endometrial glands; both are either serous or clear cell adenocarcinomas (J:215149)

♀ • an intermediate lesion, microinvasive adenocarcinoma, is seen in the glandular compartment of the endometrium (J:215149)

♀ • the lumen surface epithelium also shows sites of endometrial intraepithelial carcinoma with papillary structures lesion characterized by a papillary growth pattern with fibrovascular core (J:215149)

abnormal endometrium morphology ( J:215149 )

♀ • all mice at 24-29 weeks of age show some regions of endometrial glandular dysplasia which are characterized by enlarged and hyperchromatic nuclei, prominent nucleoli, nuclear crowding and loss of basal nuclear localization

abnormal corpus epididymis morphology ( J:215149 )

♂ • regions of the epithelium of the corpus epididymis of males frequently develop a vacuolated appearance and display nuclear atypia at around 6 months of age; these lesions do not progress to tumors

neoplasm

increased endometrial carcinoma incidence ( J:214850 , J:215149 )

♀ • adenocarcinomas (serous and clear cell) show KPNA2 expression while endometrial intraepithelial carcinomas and endometrial glandular dysplasia foci do not exhibit KPNA2 overexpression (J:214850)

♀ • mice show endometrial alterations that progress from normal epithelium to endometrial glandular dysplasia, to endometrial intraepithelial carcinoma, and finally to a papillary adenocarcinoma (J:215149)

♀ • 16 of 19 females at 65-67 weeks of age develop endometrial tumors; three different histological subtypes of type II endometrial carcinomas, as well as carcinosarcomas, develop at high frequency (J:215149)

♀ • individual mice frequently exhibit multiple independent endometrial tumors of different histological appearances (J:215149)

♀ • adenocarcinomas with a papillary growth pattern form exclusively from the surface epithelium of the lumen, whereas those with an acinar growth pattern arise from endometrial glands; both are either serous or clear cell adenocarcinomas (J:215149)

♀ • an intermediate lesion, microinvasive adenocarcinoma, is seen in the glandular compartment of the endometrium (J:215149)

♀ • the lumen surface epithelium also shows sites of endometrial intraepithelial carcinoma with papillary structures lesion characterized by a papillary growth pattern with fibrovascular core (J:215149)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
endometrial cancer		DOID:1380	OMIM:608089	J:214850

Genotype
MGI:5638874

cn16

• Allelic Composition: Col1a1^{tm2(tetO-LIN28B)Gqda}/Col1a1⁺; Gt(ROSA)26Sor^{tm1(rtTA,EGFP)Nagy}/Gt(ROSA)26Sor⁺; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * ICR

renal/urinary system

renal/urinary system phenotype ( J:211179 )

N • no kidney pathology is seen in mice induced with doxycycline

Genotype
MGI:5297494

cn17

• Allelic Composition: Oxsr1^tm1.1Ssy/Oxsr1^tm1.1Ssy; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * ICR

renal/urinary system

increased urine calcium level ( J:177443 )

increased urine potassium level ( J:177443 )

• increase in fractional excretion of potassium on both a normal chow and low potassium diet

increased urine sodium level ( J:177443 )

• elevated urine sodium excretion after 2 - 4 days on a low sodium diet compared to diet matched wild-type controls

decreased urine osmolality ( J:177443 )

• ambient osmolarity of spot urine is significantly reduced

abnormal kidney physiology ( J:177443 )

• blunted diuretic response to furosemide

homeostasis/metabolism

decreased circulating potassium level ( J:177443 )

• on both a normal chow and low potassium diet

increased urine calcium level ( J:177443 )

increased urine potassium level ( J:177443 )

• increase in fractional excretion of potassium on both a normal chow and low potassium diet

increased urine sodium level ( J:177443 )

• elevated urine sodium excretion after 2 - 4 days on a low sodium diet compared to diet matched wild-type controls

decreased urine osmolality ( J:177443 )

• ambient osmolarity of spot urine is significantly reduced

cardiovascular system

hypotension ( J:177443 )

• mice on a low sodium diet but not mice on a normal chow diet develop relative systolic hypotension

• however, on a normal chow diet blood pressure is normal

Genotype
MGI:5142310

cn18

• Allelic Composition: Kif3a^tm1Gsn/Kif3a^tm2Gsn; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * ICR

Polycystic kideny disease in Kif3a^tm1Gsn/Kif3a^tm2Gsn Tg(Cdh16-cre)91Igr/0 mutant mice

behavior/neurological

lethargy ( J:83293 )

• mice exhibit lethargy by P35

growth/size/body

kidney cyst ( J:83293 )

• mutant kidneys contain multiple, fluid-filled cysts in both the cortex and medulla

• cysts are first noted at P5 as fusiform dilatations of the collecting ducts in the renal medulla

• cyst epithelial cells lack primary cilia and display altered cell polarity as well as increased proliferation and apoptosis

kidney cortex cyst ( J:83293 )

kidney medulla cyst ( J:83293 )

• cysts are first noted at P5 as fusiform dilatations of the collecting ducts in the renal medulla

polycystic kidney ( J:83293 )

• by P35, the renal parenchyma is entirely replaced with multiple, large fluid-filled cysts

postnatal growth retardation ( J:83293 )

• mice display growth retardation by P35

enlarged kidney ( J:83293 )

• at P28, mutant kidneys are grossly enlarged

renal/urinary system

absent kidney epithelial cell primary cilium ( J:83293 )

• cilia are present in neonatal collecting ducts prior to the onset of cyst formation (P5), but are lost during postnatal development

• mice lack tubulin-positive cilia on the luminal surfaces of most cyst epithelial cells derived from the loops of Henle and collecting ducts

• cilia are missing from the surface of epithelial cells lining the cysts but are present in adjacent noncystic tubules

increased kidney apoptosis ( J:83293 )

• cyst epithelial cells display increased apoptosis

kidney cyst ( J:83293 )

• mutant kidneys contain multiple, fluid-filled cysts in both the cortex and medulla

• cysts are first noted at P5 as fusiform dilatations of the collecting ducts in the renal medulla

• cyst epithelial cells lack primary cilia and display altered cell polarity as well as increased proliferation and apoptosis

kidney cortex cyst ( J:83293 )

kidney medulla cyst ( J:83293 )

• cysts are first noted at P5 as fusiform dilatations of the collecting ducts in the renal medulla

polycystic kidney ( J:83293 )

• by P35, the renal parenchyma is entirely replaced with multiple, large fluid-filled cysts

enlarged kidney ( J:83293 )

• at P28, mutant kidneys are grossly enlarged

renal interstitial fibrosis ( J:83293 )

• advanced kidney cysts are surrounded by areas of interstitial fibrosis

renal tubule atrophy ( J:83293 )

• advanced kidney cysts are surrounded by atrophic tubules

kidney failure ( J:83293 )

• mice exhibit renal failure by P21

homeostasis/metabolism

increased blood urea nitrogen level ( J:83293 )

• mice exhibit a rapid increase in BUN levels after P14

cellular

absent kidney epithelial cell primary cilium ( J:83293 )

• cilia are present in neonatal collecting ducts prior to the onset of cyst formation (P5), but are lost during postnatal development

• mice lack tubulin-positive cilia on the luminal surfaces of most cyst epithelial cells derived from the loops of Henle and collecting ducts

• cilia are missing from the surface of epithelial cells lining the cysts but are present in adjacent noncystic tubules

increased kidney apoptosis ( J:83293 )

• cyst epithelial cells display increased apoptosis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic kidney disease		DOID:0080322	OMIM:PS173900	J:83293

Genotype
MGI:4943546

cn19

• Allelic Composition: Pten^tm1Hwu/Pten^tm1Hwu; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129S4/SvJae * BALB/c * C57BL/6J * ICR

renal/urinary system

renal/urinary system phenotype ( J:137073 )

N • mutants do not develop hydronephrosis

abnormal ureter morphology ( J:137073 )

• hyperproliferation and enlarged epithelial cells in the ureter

abnormal urinary bladder urothelium morphology ( J:137073 )

• hyperproliferation and enlarged epithelial cells in the bladder

Genotype
MGI:4943542

cn20

• Allelic Composition: Vhl^tm1Jae/Vhl^tm1Jae; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129S4/SvJae * BALB/c * C57BL/6J * ICR

renal/urinary system

hydronephrosis ( J:137073 )

• hydronephrosis, characterized by an expansion of the renal pelvis

• however, mutants do not display histological abnormalities in the urothelium of the renal pelvis or ureter, or in the structure of the tubules in the kidney cortex or medulla

Genotype
MGI:4943534

cn21

• Allelic Composition: Pten^tm1Hwu/Pten^tm1Hwu; Vhl^tm1Jae/Vhl^tm1Jae; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129S4/SvJae * BALB/c * C57BL/6J * ICR

renal/urinary system

increased kidney cell proliferation ( J:137073 )

• cysts exhibit a 3- to 6-fold increase in the number of Ki-67-positive kidney epithelial cells per mm2 of cortex

kidney cyst ( J:137073 )

• mutants develop multiple epithelial tubule cysts in the kidney cortex and medulla

• cysts develop in all mice (14 of 14) and are seen as early as 6-8 weeks of age

• cysts arise in collecting ducts and distal tubules

• most cysts are lined by a single layer of epithelial cells (simple cysts), whereas ~8% of cysts are lined by multilayered epithelial cells with occasional papillary projections (atypical cysts)

• mutants exhibit reduced frequency of primary cilia in cysts, with distal tubule cysts displaying only ~30% ciliated cells relative to 80-90% ciliated cells in wild-type

kidney cortex cyst ( J:137073 )

• mutants develop multiple epithelial tubule cysts in the kidney cortex

kidney medulla cyst ( J:137073 )

• mutants develop multiple epithelial tubule cysts in the kidney medulla

increased kidney weight ( J:137073 )

• males and females exhibit enlarged and heavier kidneys due to epithelial tubule cysts

abnormal kidney cortex morphology ( J:137073 )

• 3 of 14 mice show isolated regions of benign squamous metaplasia within the kidney cortex

abnormal kidney epithelium morphology ( J:137073 )

• kidney epithelial cells fail to maintain their primary cilia, resulting in uncontrolled proliferation and cyst formation

abnormal renal tubule epithelial cell primary cilium morphology ( J:137073 )

• mutants exhibit reduced frequency of primary cilia in cysts, with distal tubule cysts displaying only ~30% ciliated cells relative to 80-90% ciliated cells in wild-type

abnormal kidney pelvis urothelium morphology ( J:137073 )

• hyperproliferation of the urothelium in the renal pelvis is more pronounced than in single Pten mutants

hydronephrosis ( J:137073 )

cellular

abnormal renal tubule epithelial cell primary cilium morphology ( J:137073 )

• mutants exhibit reduced frequency of primary cilia in cysts, with distal tubule cysts displaying only ~30% ciliated cells relative to 80-90% ciliated cells in wild-type

increased kidney cell proliferation ( J:137073 )

• cysts exhibit a 3- to 6-fold increase in the number of Ki-67-positive kidney epithelial cells per mm2 of cortex

neoplasm

neoplasm ( J:137073 )

N • no tumors areas seen at 3-6 months of age, when mice are euthanized to avoid renal failure

growth/size/body

kidney cyst ( J:137073 )

• mutants develop multiple epithelial tubule cysts in the kidney cortex and medulla

• cysts develop in all mice (14 of 14) and are seen as early as 6-8 weeks of age

• cysts arise in collecting ducts and distal tubules

• most cysts are lined by a single layer of epithelial cells (simple cysts), whereas ~8% of cysts are lined by multilayered epithelial cells with occasional papillary projections (atypical cysts)

• mutants exhibit reduced frequency of primary cilia in cysts, with distal tubule cysts displaying only ~30% ciliated cells relative to 80-90% ciliated cells in wild-type

kidney cortex cyst ( J:137073 )

• mutants develop multiple epithelial tubule cysts in the kidney cortex

kidney medulla cyst ( J:137073 )

• mutants develop multiple epithelial tubule cysts in the kidney medulla

increased kidney weight ( J:137073 )

• males and females exhibit enlarged and heavier kidneys due to epithelial tubule cysts

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
von Hippel-Lindau disease		DOID:14175	OMIM:193300	J:137073

Genotype
MGI:6317328

cn22

• 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

cn23

• 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:5638875

cn24

• Allelic Composition: Tg(Cdh16-cre)91Igr/0; Tg(EIF1AX-Lin28a)#Gqda/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * ICR

neoplasm

neoplasm ( J:211179 )

N • mice do not develop renal tumors

Genotype
MGI:5285852

cn25

• Allelic Composition: Apc^tm1Tno/Apc^tm1Tno; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129S4/SvJae * ICR

mortality/aging

premature death ( J:95502 )

• rare mice that survive to adulthood become moribund at 8-12 weeks of age

postnatal lethality, incomplete penetrance ( J:95502 )

• most mice die within 2-3 days of birth

• only 6 of 540 mice survive to weaning age

renal/urinary system

kidney cyst ( J:95502 )

• multiple kidney cysts are already noted at P2, involving both the nephrogenic zone and renal cortex

• at 8 weeks of age, kidney cysts include simple cysts lined by a single layer of epithelial cells, glomerular cysts, and multilayered cysts lined by a hyperplastic epithelium

• Ki67 staining revealed a dramatic increase in proliferation in the cyst wall epithelium

• kidney cysts are derived from multiple cell types including Bowman's capsule, proximal tubules, thick ascending limbs, distal convoluted tubules, and collecting ducts

• multilayered hyperplastic cysts display characteristics of neoplasia

• no loss of cilia in renal tubular epithelia is observed; however, large multilayered cysts show complete lack of cilia

polycystic kidney ( J:95502 )

• at 8 weeks of age, 6 of 6 mice display severe polycystic kidney disease

enlarged kidney ( J:95502 )

• at 8 weeks of age, kidneys are severely enlarged

increased renal cystadenoma incidence ( J:95502 )

• at 8 weeks of age, at least 2 of 6 mice show clear evidence of cystic renal adenoma

• however, no evidence of metastatic disease is observed in adult mice

growth/size/body

decreased body weight ( J:95502 )

• rare mice that survive to adulthood weigh 3-4 grams less than control littermates

kidney cyst ( J:95502 )

• multiple kidney cysts are already noted at P2, involving both the nephrogenic zone and renal cortex

• at 8 weeks of age, kidney cysts include simple cysts lined by a single layer of epithelial cells, glomerular cysts, and multilayered cysts lined by a hyperplastic epithelium

• Ki67 staining revealed a dramatic increase in proliferation in the cyst wall epithelium

• kidney cysts are derived from multiple cell types including Bowman's capsule, proximal tubules, thick ascending limbs, distal convoluted tubules, and collecting ducts

• multilayered hyperplastic cysts display characteristics of neoplasia

• no loss of cilia in renal tubular epithelia is observed; however, large multilayered cysts show complete lack of cilia

polycystic kidney ( J:95502 )

• at 8 weeks of age, 6 of 6 mice display severe polycystic kidney disease

enlarged kidney ( J:95502 )

• at 8 weeks of age, kidneys are severely enlarged

homeostasis/metabolism

increased blood urea nitrogen level ( J:95502 )

• BUN levels are significantly increased in early postnatal period (P2)

• BUN levels are also significantly increased in the rare mice that survive to adulthood

neoplasm

increased renal cystadenoma incidence ( J:95502 )

• at 8 weeks of age, at least 2 of 6 mice show clear evidence of cystic renal adenoma

• however, no evidence of metastatic disease is observed in adult mice

Genotype
MGI:4839497

cn26

• Allelic Composition: Pten^tm1Hwu/Pten^tm1Hwu; Vhl^tm1Jae/Vhl^tm1Jae; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129S4/SvJae * ICR

reproductive system

abnormal oviduct morphology ( J:137442 )

♀ • cysts and squamous epithelial hyperplasia in the oviduct

endometrium hyperplasia ( J:137442 )

♀ • females exhibit hyperplasia and full squamous differentiation of the uterine endometrial lumen, endometrial hyperplasia, and endometrial hyperplasia with cyst formation

abnormal uterine cervix squamous epithelium morphology ( J:137442 )

♀ • cysts and squamous epithelial hyperplasia in the cervix

abnormal epididymis morphology ( J:137442 )

♂ • squamous metaplasia is seen in the epididymis

♂ • vascularization is increased in the epididymides

increased epididymal cystadenoma incidence ( J:137442 )

♂ • tumors contain regions of cystadenoma characterized by adenoid structures identical to human cystadenoma lesions arising in epididymides

♂ • cystadenoma display clear cell morphology

neoplasm

increased tumor incidence ( J:137442 )

• regions of squamous differentiation intermingle with the regions of cystadenoma

• cystadenomas appear to result from basal cell proliferation without differentiation, whereas regions of squamous metaplasia contain abundant basal cells in basal layers as well as cells with markers of epidermal differentiation

increased adenoma incidence ( J:137442 )

• all mutants develop benign mixed adenosquamous genital tract tumors (in epididymis, vesicular glands, vas deferens, endometrium, and oviduct) resembling clear cell cystadenomas that form in patients with Von Hippel-Lindau syndrome (VHL)

• tumors arise simultaneously in all genital tract epithelia and show expansion of basal cells

• endometrial hyperplasia with cyst formation resembles cystadenoma and cystic lesions seen in broad ligament of females with VHL

increased epididymal cystadenoma incidence ( J:137442 )

♂ • tumors contain regions of cystadenoma characterized by adenoid structures identical to human cystadenoma lesions arising in epididymides

♂ • cystadenoma display clear cell morphology

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
von Hippel-Lindau disease		DOID:14175	OMIM:193300	J:137442

Genotype
MGI:4839498

cn27

• Allelic Composition: Vhl^tm1Jae/Vhl^tm1Jae; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129S4/SvJae * ICR

reproductive system

abnormal epididymis morphology ( J:137442 )

♂ • aberrant presence of dilated blood capillaries surrounding epididymal tubules indicating increased vascularization

♂ • however, the genital tracts of males and females look normal

Genotype
MGI:4839499

cn28

• Allelic Composition: Pten^tm1Hwu/Pten^tm1Hwu; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129S4/SvJae * ICR

endocrine/exocrine glands

abnormal seminal vesicle morphology ( J:137442 )

♂ • epithelial hyperplasia in vesicular glands

reproductive system

abnormal reproductive system morphology ( J:137442 )

• genital tissues are enlarged

abnormal seminal vesicle morphology ( J:137442 )

♂ • epithelial hyperplasia in vesicular glands

abnormal endometrium morphology ( J:137442 )

♀ • endometrial hyperplasia is accompanied by partial squamous differentiation

endometrium hyperplasia ( J:137442 )

♀ • hyperplasia of the endometrial glands and lumen

abnormal epididymis epithelium morphology ( J:137442 )

♂ • epithelial hyperplasia in epididymis

abnormal vas deferens morphology ( J:137442 )

♂ • epithelial hyperplasia in vas deferens

neoplasm

neoplasm ( J:137442 )

N • mice up to 1 year of age do not form tumors

Genotype
MGI:3829652

cn29

• Allelic Composition: Flcn^tm1Btt/Flcn^tm1Btt; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6 * ICR

mortality/aging

postnatal lethality, complete penetrance ( J:143922 )

• die of kidney failure by 3 weeks of age

• in late stages degeneration, necrosis and hemorrhages are seen

• rapamycin treatment extends survival with some mice surviving more than 50 days

renal/urinary system

kidney hemorrhage ( J:143922 )

• seen in late stages of kidney failure

polycystic kidney ( J:143922 )

• develop bilateral polycystic kidneys

increased kidney weight ( J:143922 )

• kidney weight is increased 10 fold compared to controls

increased renal carcinoma incidence ( J:143922 )

• hyperplasia and renal cell carcinoma are seen by P18

• cystic renal cell carcinoma is frequently seen in extremely enlarged kidneys

dilated kidney collecting duct ( J:143922 )

• extremely dilated tubules, predominantly originating from the collecting ducts

renal glomerulus atrophy ( J:143922 )

• atrophic, compressed glomeruli are seen

abnormal renal tubule epithelium morphology ( J:143922 )

• hyperplastic areas with multiple layers of epithelial cells are seen along the inner surface of tubules

dilated proximal convoluted tubule ( J:143922 )

• some proximal tubules are highly to moderately dilated

kidney failure ( J:143922 )

• by 3 weeks of age

homeostasis/metabolism

increased blood urea nitrogen level ( J:143922 )

• levels of blood urea nitrogen are increased over 10 fold compared to littermate controls

neoplasm

increased renal carcinoma incidence ( J:143922 )

• hyperplasia and renal cell carcinoma are seen by P18

• cystic renal cell carcinoma is frequently seen in extremely enlarged kidneys

cardiovascular system

kidney hemorrhage ( J:143922 )

• seen in late stages of kidney failure

growth/size/body

polycystic kidney ( J:143922 )

• develop bilateral polycystic kidneys

increased kidney weight ( J:143922 )

• kidney weight is increased 10 fold compared to controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Birt-Hogg-Dube syndrome		DOID:0050676	OMIM:135150	J:143922
nonpapillary renal cell carcinoma		DOID:0050387	OMIM:144700	J:143922

Genotype
MGI:5774940

cn30

• Allelic Composition: Exoc5^{tm1c(KOMP)Mbp}/Exoc5^{tm1c(KOMP)Mbp}; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6N * ICR

mortality/aging

neonatal lethality, incomplete penetrance ( J:226950 )

• nearly all mice die 6 to 14 hours after birth due to urinary obstruction

• however, a few mice survive past the first day

renal/urinary system

renal/urinary system phenotype ( J:226950 )

N • no apoptosis is detected in collecting duct epithelia

hydronephrosis ( J:226950 , J:250161 )

• severe bilateral in dead newborn mice (J:226950)

• however, mice that survive beyond the first day do not exhibit hydronephrosis (J:226950)

dilated renal tubule ( J:226950 )

• along the nephron, including at the tips of branching ureteric buds

• most severe dilation is found in the distal sections of the nephron

abnormal ureter morphology ( J:250161 )

• uroplakin plaques are completely missing on the luminal surface of E17.5 ureters

abnormal ureter smooth muscle morphology ( J:226950 )

• increased proliferation rates by E17.5

abnormal ureter urothelium morphology ( J:226950 , J:250161 )

• absence of lumen in obstructed ureters with rampant overgrowth of mesenchymal-shaped cells that may be either smooth muscle cells or myofibroblasts (J:226950)

• urothelial layer at E16.5 shows a reduction in apical microvilli (J:250161)

• E17.5 ureters show an abnormal single urothelial layer rather than a two-layered urothelium, with gaps in the epithelium and cells pulling away from the basement membrane toward the center of the lumen (J:250161)

• urothelial cells at E17.5 have lost large amounts of cytoplasm, and show irregular disrupted plasma membranes and unusual distributions of electron-dense material in the nuclei (J:250161)

• at E17.5, but not E16.5, the urothelial layer is about half the width or control urothelium (J:250161)

• ureters show a complete loss of the epithelial layer at E18.5, indicating urothelial degeneration (J:250161)

• urothelial cells do not show tight cell-cell contacts at E17.5 (J:250161)

• ureters at E17.5 show a complete absence of intracellular vesicles in the apical membrane of the superficial urothelial cells (J:250161)

• urothelial cells in the developing ureter die largely due to necrosis and not apoptosis (J:250161)

• however, no changes in the width of the smooth muscle layer are seen at E16.5 or E17.5 (J:250161)

ureter obstruction ( J:226950 )

ureteropelvic junction obstruction ( J:226950 , J:250161 )

• develops between E16.5 and E18.5 (J:226950)

• at E18.5 and in newborn mice with deposits of white debris (J:226950)

• mice develop bilateral in utero ureteropelvic junction obstructions, with granulation tissue filling the ureter lumen (J:250161)

• obstructed ureters exhibit stromal remodeling, with the lumen filled with fibroblastic cells and extracellular matrix deposits (J:250161)

abnormal ureter physiology ( J:226950 , J:250161 )

• increased smooth muscle proliferation rates by E17.5 (J:226950)

• urothelial barrier is compromised in the E17.5 ureter becoming leaky to luminal fluid (J:250161)

anuria ( J:226950 )

• in newborn mice

cardiovascular system

abnormal heart morphology ( J:226950 )

• heart distention in mice that die after birth

hemorrhage ( J:226950 )

• in mice that die after birth

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
obstructive nephropathy		DOID:0070314		J:250161 , J:226950

Genotype
MGI:5518536

cn31

• Allelic Composition: Fh1^tm1Pjp/Fh1^tm1Pjp; Gt(ROSA)26Sor^{tm2(CAG-FH*)Pjp}/Gt(ROSA)26Sor⁺; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * C57BL/6J * ICR

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:198486 )

N • urea cycle metabolism is rescued

renal/urinary system

renal/urinary system phenotype ( J:198486 )

N • kidney size and morphology are rescued

Genotype
MGI:5518535

cn32

• Allelic Composition: Fh1^tm1Pjp/Fh1^tm1Pjp; Gt(ROSA)26Sor^{tm1(CAG-FH)Pjp}/Gt(ROSA)26Sor⁺; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * C57BL/6J * ICR

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:198486 )

N • urea cycle metabolism is rescued

renal/urinary system

renal/urinary system phenotype ( J:198486 )

N • kidney size and morphology are rescued

Genotype
MGI:5569648

cn33

• Allelic Composition: Ano1^tm2Jrr/Ano1^tm2Jrr; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129S6/SvEvTac * ICR

renal/urinary system

decreased urine chloride ion level ( J:210158 )

• at 8 to 12 weeks

decreased urine potassium level ( J:210158 )

• at 8 to 12 weeks

decreased urine sodium level ( J:210158 )

• at 8 to 12 weeks

increased urine protein level ( J:210158 )

• at P1

• however, this difference faded as animals age

albuminuria ( J:210158 )

• macro-albuminuria

abnormal renal tubule epithelium morphology ( J:210158 )

• proximal tubular epithelial (PTE) cells exhibit accumulation of intracellular endosomal vesicles unlike in wild-type cells

• PTE cells are more hyperpolarized and acidic with decreased albumin uptake compared with wild-type cells

homeostasis/metabolism

increased circulating aldosterone level ( J:210158 )

• at 8 to 12 weeks

increased circulating renin level ( J:210158 )

• at 8 to 12 weeks

decreased urine chloride ion level ( J:210158 )

• at 8 to 12 weeks

decreased urine potassium level ( J:210158 )

• at 8 to 12 weeks

decreased urine sodium level ( J:210158 )

• at 8 to 12 weeks

increased urine protein level ( J:210158 )

• at P1

• however, this difference faded as animals age

albuminuria ( J:210158 )

• macro-albuminuria

Genotype
MGI:3711144

cn34

• Allelic Composition: Fh1^tm1Pjp/Fh1^tm1Pjp; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129X1/SvJ * ICR

growth/size/body

kidney cyst ( J:120969 , J:198486 )

• all animals exhibit macroscopic renal cysts at post-mortem; (J:120969)

• some cells lining the cysts show poor intercellular cohesion and mild nuclear variation (J:120969)

• cysts are derived from ascending limb of the Loop of Henle and from collecting ducts (J:120969)

kidney corticomedullary cyst ( J:120969 )

• at cortico-medullary junction, kidneys display extensive cytic changes; these irregular cysts are lined with cuboidal epithelium

enlarged kidney ( J:198486 )

homeostasis/metabolism

abnormal urine homeostasis ( J:198486 )

• mice accumulate fumarate, argininosuccinate and citrulline in the kidneys whereas aspartate is depleted

abnormal enzyme/coenzyme activity ( J:120969 )

• cysts occasionally show lack of cytochrome c oxidase activity

renal/urinary system

kidney cyst ( J:120969 , J:198486 )

• all animals exhibit macroscopic renal cysts at post-mortem; (J:120969)

• some cells lining the cysts show poor intercellular cohesion and mild nuclear variation (J:120969)

• cysts are derived from ascending limb of the Loop of Henle and from collecting ducts (J:120969)

kidney corticomedullary cyst ( J:120969 )

• at cortico-medullary junction, kidneys display extensive cytic changes; these irregular cysts are lined with cuboidal epithelium

enlarged kidney ( J:198486 )

abnormal urine homeostasis ( J:198486 )

• mice accumulate fumarate, argininosuccinate and citrulline in the kidneys whereas aspartate is depleted

glomerulosclerosis ( J:120969 )

• occasionally sclerotic glomeruli are seen in tubules

abnormal renal tubule epithelium morphology ( J:120969 )

• some tubules are lined by vacuolated epithelium containing proteinaceous debris, but most have small amounts of eosinophilic secretion

hydronephrosis ( J:120969 )

• mild hydronephrosis is seen in mice >14 months old

kidney failure ( J:120969 )

• some mice develop polyuric renal failure at 8 months of age

polyuria ( J:120969 )

cellular

abnormal tricarboxylic acid cycle ( J:198486 )

• in mouse embryonic fibroblasts

abnormal fibroblast physiology ( J:198486 )

• mouse embryonic fibroblasts exhibit multiple defects in the Krebs cycle and utilizes the urea cycle but not reductive carboxylation compared with wild-type cells

• mouse embryonic fibroblasts exhibit increased sensitivity to arginine deprivation with reduced colony growth and survival compared with wild-type cells

Genotype
MGI:5427999

cn35

• Allelic Composition: Wnt9b^tm1.1Amc/Wnt9b^tm1.2Amc; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129X1/SvJ * ICR

mortality/aging

premature death ( J:151498 )

• most mice die between P30 and P45 with no mice surviving past P60

renal/urinary system

kidney cyst ( J:151498 )

• delayed compared to in Wnt9b^tm1Amc homozygotes

• few cysts at P1

• prevalent by P10

• by P15, mice develop cysts in all nephrons of glomerulus, proximal tubule, loop of Henle and collecting duct

renal glomerulus cyst ( J:151498 )

abnormal kidney collecting duct epithelium morphology ( J:151498 )

• collecting duct epithelial cells exhibit randomized elongation unlike in wild-type mice

abnormal renal tubule epithelium morphology ( J:151498 )

• at P5, epithelium cell divisions are not oriented within the plane of the epithelium unlike in control mice

• by P30, little normal epithelia remains

dilated renal tubule ( J:151498 )

growth/size/body

kidney cyst ( J:151498 )

• delayed compared to in Wnt9b^tm1Amc homozygotes

• few cysts at P1

• prevalent by P10

• by P15, mice develop cysts in all nephrons of glomerulus, proximal tubule, loop of Henle and collecting duct

renal glomerulus cyst ( J:151498 )

Genotype
MGI:5428001

cn36

• Allelic Composition: Ctnnb1^tm1Mmt/Ctnnb1⁺; Wnt9b^tm1.1Amc/Wnt9b^tm1.2Amc; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129X1/SvJ * ICR

renal/urinary system

kidney cyst ( J:151498 )

• cystic index at P1 is increased compared to in Wnt9b^tm1.1Amc/Wnt9b^tm1.2Amc Tg(Cdh16-cre)91Igr mice

growth/size/body

kidney cyst ( J:151498 )

• cystic index at P1 is increased compared to in Wnt9b^tm1.1Amc/Wnt9b^tm1.2Amc Tg(Cdh16-cre)91Igr mice

Genotype
MGI:5428002

cn37

• Allelic Composition: Ctnnb1^tm1Mmt/Ctnnb1⁺; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: 129X1/SvJ * ICR

mortality/aging

postnatal lethality, complete penetrance ( J:151498 )

• mice die by P2

renal/urinary system

kidney cyst ( J:151498 )

dilated renal tubule ( J:151498 )

• mild at birth

growth/size/body

kidney cyst ( J:151498 )

Genotype
MGI:5432217

cn38

• Allelic Composition: Sod2^tm1Shs/Sod2^tm1Shs; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: C57BL/6 * C57BL/6CrSlc

mortality/aging

mortality/aging ( J:174099 )

N • mice exhibit no overt survival difference up to ~22 months of age relative to controls

growth/size/body

decreased body weight ( J:174099 )

• at 8 weeks of age, mice exhibit a significantly smaller body weight relative to controls

• however, no significant differences in the weight of vital organs (kidney, liver, heart and lungs) are observed

renal/urinary system

renal/urinary system phenotype ( J:174099 )

N • mice exhibit no overt decrease in renal function, as measured by serum creatinine levels

abnormal renal tubule epithelium morphology ( J:174099 )

• mice show prominent epithelial cell swelling in the dilated distal tubules

dilated distal convoluted tubule ( J:174099 )

• mice exhibit dilated distal tubules within the cortex region relative to controls

renal cast ( J:174099 )

• dilated distal tubules show a significant increase in proteinacious casts within the tubular lumen

• acellular casts within distal tubules, collecting ducts, and Loops of Henle display positive staining for tyrosine nitration

cellular

oxidative stress ( J:174099 )

• mice display a significant increase in oxidative stress (tyrosine nitration) in dilated renal tubules

• tyrosine nitration is detected in cortical regions (dilated distal tubules and collecting ducts) as well as medullary regions (including the collecting ducts and Loops of Henle)

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:174099 )

N • mice exhibit normal blood glucose levels relative to controls

N • no significant difference in serum creatinine levels relative to controls

cardiovascular system

cardiovascular system phenotype ( J:174099 )

N • mice exhibit no significant change in systolic blood pressure relative to controls

Genotype
MGI:5432218

cn39

• Allelic Composition: Sod2^tm1Shs/Sod2⁺; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: C57BL/6 * C57BL/6CrSlc

renal/urinary system

abnormal renal tubule epithelium morphology ( J:174099 )

• mice show prominent epithelial cell swelling in the dilated distal tubules

cellular

oxidative stress ( J:174099 )

• mice display a significant increase in oxidative stress (tyrosine nitration) in dilated renal tubules

Genotype
MGI:3776087

cn40

• Allelic Composition: Flcn^tm1Baba/Flcn^tm1.1Lss; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: C57BL/6 * FVB/N * ICR * SJL

mortality/aging

premature death ( J:130978 )

• treatment of mice with rapamycin extends lifespan nearly 2-fold, but all animals die of renal failure

postnatal lethality, complete penetrance ( J:130978 )

• animals appear normal at birth, but develop distended abdomens and die around 3 weeks of age from renal failure

growth/size/body

kidney cyst ( J:130978 )

• at 3 weeks, kidneys are markedly cystic

distended abdomen ( J:130978 )

• by 2 weeks, mice display distended abdomens which are very pronounced at time of death

enlarged kidney ( J:130978 )

• at time of death, enlarged kidneys fill abdominal cavity; penetrance of phenotype is 100%

• enlargement begins at 1 week due to collecting duct dilation

increased kidney weight ( J:130978 )

• between P7 and P21, kidney to body weight ratio (under wet and dried conditions) dramatically increases relative to littermate controls

renal/urinary system

abnormal kidney vasculature morphology ( J:130978 )

• kidneys have fine reticular pattern of interstitial tissue containing numerous blood vessels, not observed in control kidneys

increased kidney cell proliferation ( J:130978 )

• in culture, tubule cells show much higher proliferation rate than control cells

kidney cyst ( J:130978 )

• at 3 weeks, kidneys are markedly cystic

enlarged kidney ( J:130978 )

• at time of death, enlarged kidneys fill abdominal cavity; penetrance of phenotype is 100%

• enlargement begins at 1 week due to collecting duct dilation

increased kidney weight ( J:130978 )

• between P7 and P21, kidney to body weight ratio (under wet and dried conditions) dramatically increases relative to littermate controls

abnormal kidney collecting duct morphology ( J:130978 )

• by 2 weeks, lumens of ducts are cystic

• at 3 weeks, collecting ducts in the medulla and extending into the papilla are severely cystic

dilated kidney collecting duct ( J:130978 )

• by 1 week of age, dilation of collecting ducts is observed

abnormal kidney corticomedullary boundary morphology ( J:130978 )

• anatomical distinction between cortex and medulla is disrupted

abnormal kidney pyramid morphology ( J:130978 )

• regions of pyramidal infarctions are observed at 3 weeks

abnormal renal tubule morphology ( J:130978 )

• by 2 weeks, lumens of tubules are cystic

• most cells lining the tubules are hypertrophic with enlarged nuclei and cytoplasm; many cells ar hyperplastic

dilated renal tubule ( J:130978 )

• by 2 weeks, lumens of tubules are cystic

kidney failure ( J:130978 )

• occurs around 3 weeks of age

cardiovascular system

abnormal kidney vasculature morphology ( J:130978 )

• kidneys have fine reticular pattern of interstitial tissue containing numerous blood vessels, not observed in control kidneys

homeostasis/metabolism

increased blood urea nitrogen level ( J:130978 )

• levels are significantly elevated at 2 and 3 weeks of age, compared to controls

cellular

increased kidney cell proliferation ( J:130978 )

• in culture, tubule cells show much higher proliferation rate than control cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Birt-Hogg-Dube syndrome		DOID:0050676	OMIM:135150	J:130978

Genotype
MGI:5897115

cn41

• Allelic Composition: Flcn^tm1Baba/Flcn^tm1Baba; Fnip1^tm1.1Baba/Fnip1^tm1.1Baba; Fnip2^tm1.1Lss/Fnip2^tm1.1Lss; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: C57BL/6 * ICR

renal/urinary system

polycystic kidney ( J:220672 )

• no increase in severity of cystic phenotype compared to mutant mice wild-type for Flcn

enlarged kidney ( J:220672 )

• no increase in severity of phenotype compared to mutant mice wild-type for Flcn

growth/size/body

polycystic kidney ( J:220672 )

• no increase in severity of cystic phenotype compared to mutant mice wild-type for Flcn

enlarged kidney ( J:220672 )

• no increase in severity of phenotype compared to mutant mice wild-type for Flcn

Genotype
MGI:5897114

cn42

• Allelic Composition: Fnip1^tm1.1Baba/Fnip1^tm1.1Baba; Fnip2^tm1.1Lss/Fnip2^tm1.1Lss; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: C57BL/6 * ICR

mortality/aging

postnatal lethality, complete penetrance ( J:220672 )

• survival time is about 3 weeks

renal/urinary system

polycystic kidney ( J:220672 )

enlarged kidney ( J:220672 )

cellular

abnormal mitochondrial physiology ( J:220672 )

• increased respiratory capacity and mitochondrial surface area indicating increased mitochondrial biogenesis

growth/size/body

polycystic kidney ( J:220672 )

enlarged kidney ( J:220672 )

Genotype
MGI:5897111

cn43

• Allelic Composition: Fnip2^tm1.1Lss/Fnip2^tm1.1Lss; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: C57BL/6 * ICR

renal/urinary system

renal/urinary system phenotype ( J:220672 )

N • no kidney phenotypes detected

Genotype
MGI:5897110

cn44

• Allelic Composition: Fnip1^tm1.1Baba/Fnip1^tm1.1Baba; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: C57BL/6 * ICR

renal/urinary system

kidney cyst ( J:220672 )

• occasional tiny cysts

growth/size/body

kidney cyst ( J:220672 )

• occasional tiny cysts

Genotype
MGI:7645364

cn45

• Allelic Composition: Mrpl12^em1Smoc/Mrpl12^em1Smoc; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: C57BL/6 * ICR

renal/urinary system

abnormal renal tubule epithelium morphology ( J:339098 )

• mitochondria are swollen with rupture of the membrane and distorted cristae

cellular

abnormal mitochondrial morphology ( J:339098 )

• rupture of mitochondrial membranes in renal tubular epithelial cells

abnormal mitochondrial crista morphology ( J:339098 )

• distorted in renal tubular epithelial cells

dilated mitochondrion ( J:339098 )

• swollen mitochondria in renal tubular epithelial cells

Genotype
MGI:5515392

cn46

• Allelic Composition: Kl^tm1.1Tel/Kl^tm1.1Tel; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: C57BL/6 * ICR

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:201719 )

N • 1,25(OH)2D calcium and creatinine levels are normal

decreased circulating parathyroid hormone level ( J:201719 )

• in mice fed standard chow

increased circulating parathyroid hormone level ( J:201719 )

• in mice are fed a high phosphate diet

increased circulating phosphate level ( J:201719 )

• in mice fed standard chow

• more so when mice are fed a high phosphate diet

increased urine calcium level ( J:201719 )

renal/urinary system

increased urine calcium level ( J:201719 )

Genotype
MGI:5444005

cn47

• Allelic Composition: Cldn10^tm1.1Dmu/Cldn10^tm1.1Dmu; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: C57BL/6 * ICR * SJL

Nephrocalcinosis in Cldn10^tm1.1Dmu/Cldn10^tm1.1Dmu Tg(Cdh16-cre)91Igr/0 kidneys

renal/urinary system

abnormal urine homeostasis ( J:188580 )

decreased urine calcium level ( J:188580 )

• slight decrease in fractional excretion of Ca²⁺

• however, serum calcium levels are not increased

increased urine potassium level ( J:188580 )

• increase in K+ fractional excretion

decreased urine magnesium level ( J:188580 )

• fractional excretion of Mg²⁺ is only 52% of controls

decreased urine osmolality ( J:188580 )

• parallels increased urine volume

decreased urine pH ( J:188580 )

decreased urine urea nitrogen level ( J:188580 )

• 1.4 fold lower fractional excretion of urea

nephrocalcinosis ( J:188580 )

• extensive medullary calcium deposits at 10 weeks of age along the outer stripe of the outer medulla and in the inner stripe of the outer medulla at the transition to the inner medulla

abnormal kidney physiology ( J:188580 )

• in freshly isolated tubule thick ascending limbs the permeability sequence for different cations are altered from monovalent to divalent

abnormal renal reabsorption ( J:188580 )

• increase in Mg²⁺ reabsorbtion

abnormal renal calcium reabsorption ( J:188580 )

• slight increased

polyuria ( J:188580 )

• moderate

behavior/neurological

polydipsia ( J:188580 )

• moderate

homeostasis/metabolism

increased blood urea nitrogen level ( J:188580 )

• 1.4 fold higher serum urea concentration

abnormal circulating mineral level ( J:188580 )

increased circulating magnesium level ( J:188580 )

• increased 2 fold

increased circulating phosphate level ( J:188580 )

• 28% higher

abnormal renal calcium reabsorption ( J:188580 )

• slight increased

abnormal urine homeostasis ( J:188580 )

decreased urine calcium level ( J:188580 )

• slight decrease in fractional excretion of Ca²⁺

• however, serum calcium levels are not increased

increased urine potassium level ( J:188580 )

• increase in K+ fractional excretion

decreased urine magnesium level ( J:188580 )

• fractional excretion of Mg²⁺ is only 52% of controls

decreased urine osmolality ( J:188580 )

• parallels increased urine volume

decreased urine pH ( J:188580 )

decreased urine urea nitrogen level ( J:188580 )

• 1.4 fold lower fractional excretion of urea

Genotype
MGI:3795670

cn48

• 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:3795669

cn49

• 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:6115594

cn50

• Allelic Composition: Arl13b^{tm1c(EUCOMM)Wtsi}/Arl13b^{tm1c(EUCOMM)Wtsi}; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: C57BL/6J * C57BL/6N * ICR
• Cell Lines: EPD0065_5_C03

mortality/aging

premature death ( J:240795 )

• mice die at around P60

renal/urinary system

absent kidney epithelial cell primary cilium ( J:240795 )

• at P14, most DBA-positive collecting duct epithelial cells are devoid of cilia, indicating a cilia biogenesis defect

increased kidney cell proliferation ( J:240795 )

• at P14, kidneys exhibit ~14% of BrdU-positive nuclei in DBA-positive cyst-lining cells versus ~2.8% in control kidneys, suggesting a significant increase in cell proliferation

kidney cyst ( J:240795 )

• mice show rapid kidney cyst formation, with minimal cysts at P7, significant cysts in both the medulla and cortex region at P14, and severely cystic kidneys at P17

• cyst formation is confined to the distal nephron

• at P14, cysts mainly form in the collecting duct; by P28, cysts are detected in the medullary thick ascending limb and the distal convoluted tubule

kidney cortex cyst ( J:240795 )

• significant cysts in the cortex region at P14

kidney medulla cyst ( J:240795 )

• significant cysts in the medulla region at P14

polycystic kidney ( J:240795 )

• mice exhibit rapid progression of polycystic kidney disease (PKD) with severely cystic kidneys at P17

• treatment with valproic acid (VPA, a histone deacetylase inhibitor) can partially suppress PKD progression

enlarged kidney ( J:240795 )

• starting at P14, kidney size is obviously enlarged; by P17, kidney size is significantly increased

• mice treated with valproic acid (VPA, a histone deacetylase inhibitor) from P10 to P25 show significantly reduced kidney size relative to vehicle-treated controls

increased kidney weight ( J:240795 )

• at P14, kidney-to-body weight ratio is significantly increased

• mice treated with VPA from P10 to P25 show a significantly reduced kidney-to-body weight ratio relative to vehicle-treated controls

dilated kidney collecting duct ( J:240795 )

• at P7, some DBA-positive regions marking the collecting ducts are already dilated

• in dilated regions, cilia are largely absent, whereas cilia are still present in non-dilated DBA-positive regions

renal fibrosis ( J:240795 )

• at P28, but not at P21, kidneys exhibit increased trichrome staining indicating collagen deposition

• mice treated with VPA from P10 to P25 show a significantly reduced collagen deposition relative to vehicle-treated controls

renal interstitial fibrosis ( J:240795 )

• at P28, kidney interstitial cells show a dramatic increase in smooth muscle actin expression relative to controls

• VPA treatment from P10 to P25 significantly reduces smooth muscle actin expression in the interstitium

kidney failure ( J:240795 )

• mice develop rapidly progressive renal failure

homeostasis/metabolism

increased blood urea nitrogen level ( J:240795 )

• BUN level is significantly increased at P14

• mice treated with VPA from P10 to P25 show a significantly reduced BUN level, indicating improved kidney function

cellular

absent kidney epithelial cell primary cilium ( J:240795 )

• at P14, most DBA-positive collecting duct epithelial cells are devoid of cilia, indicating a cilia biogenesis defect

increased kidney cell proliferation ( J:240795 )

• at P14, kidneys exhibit ~14% of BrdU-positive nuclei in DBA-positive cyst-lining cells versus ~2.8% in control kidneys, suggesting a significant increase in cell proliferation

growth/size/body

kidney cyst ( J:240795 )

• mice show rapid kidney cyst formation, with minimal cysts at P7, significant cysts in both the medulla and cortex region at P14, and severely cystic kidneys at P17

• cyst formation is confined to the distal nephron

• at P14, cysts mainly form in the collecting duct; by P28, cysts are detected in the medullary thick ascending limb and the distal convoluted tubule

kidney cortex cyst ( J:240795 )

• significant cysts in the cortex region at P14

kidney medulla cyst ( J:240795 )

• significant cysts in the medulla region at P14

polycystic kidney ( J:240795 )

• mice exhibit rapid progression of polycystic kidney disease (PKD) with severely cystic kidneys at P17

• treatment with valproic acid (VPA, a histone deacetylase inhibitor) can partially suppress PKD progression

enlarged kidney ( J:240795 )

• starting at P14, kidney size is obviously enlarged; by P17, kidney size is significantly increased

• mice treated with valproic acid (VPA, a histone deacetylase inhibitor) from P10 to P25 show significantly reduced kidney size relative to vehicle-treated controls

increased kidney weight ( J:240795 )

• at P14, kidney-to-body weight ratio is significantly increased

• mice treated with VPA from P10 to P25 show a significantly reduced kidney-to-body weight ratio relative to vehicle-treated controls

Genotype
MGI:7645488

cn51

• Allelic Composition: Isg20^em1Cya/Isg20^em1Cya; Tg(Cdh16-cre)91Igr/0
• Genetic Background: involves: C57BL/6N * ICR

renal/urinary system

increased susceptibility to kidney reperfusion injury ( J:343183 )

• significantly aggravated renal injuries following ischemia/reperfusion injury with increase tubule epithelial cell death and exacerbated inflammation

• following ischemia/reperfusion levels of blood urea nitrogen and serum creatinine are increased compared to similarly treated wild-type controls

• elevated levels of oxidized RNA following ischemia/reperfusion injury compared to similarly treated wild-type controls

kidney inflammation ( J:343183 )

• more severe inflammation after ishcenia/reperfusion injury compared to similarly treated wild-type controls

homeostasis/metabolism

increased circulating creatinine level ( J:343183 )

• after ischemia/reperfusion injury compared to similarly treated wild-type mice

• baseline creatinine is similar to controls

increased blood urea nitrogen level ( J:343183 )

• after ischemia/reperfusion injury compared to similarly treated wild-type mice

• baseline BUN is similar to controls

increased susceptibility to kidney reperfusion injury ( J:343183 )

• significantly aggravated renal injuries following ischemia/reperfusion injury with increase tubule epithelial cell death and exacerbated inflammation

• following ischemia/reperfusion levels of blood urea nitrogen and serum creatinine are increased compared to similarly treated wild-type controls

• elevated levels of oxidized RNA following ischemia/reperfusion injury compared to similarly treated wild-type controls

immune system

kidney inflammation ( J:343183 )

• more severe inflammation after ishcenia/reperfusion injury compared to similarly treated wild-type controls

Genotype
MGI:6317338

cx52

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

renal/urinary system

polycystic kidney ( J:244067 )

• mice exhibit slow cyst growth

renal fibrosis ( J:244067 )

• mice develop renal fibrosis

homeostasis/metabolism

increased blood urea nitrogen level ( J:244067 )

growth/size/body

polycystic kidney ( J:244067 )

• mice exhibit slow cyst growth