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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tg(Cdh16-cre)91Igr
transgene insertion 91, Peter Igarashi
MGI:2665300
Summary 51 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Abcc6tm1c(EUCOMM)Wtsi/Abcc6tm1c(EUCOMM)Wtsi
Tg(Cdh16-cre)91Igr/?
B6.Cg-Abcc6tm1c(EUCOMM)Wtsi Tg(Cdh16-cre)91Igr MGI:6241512
cn2
Pkd1tm1.1Pcha/Pkd1tm2Som
Tg(Cdh16-cre)91Igr/0
involves: 129 * 129S4/SvJae * C57BL/6 * ICR MGI:6317334
cn3
Mirc1tm1.1Tyj/Mirc1tm1.1Tyj
Pkd1tm1.1Pcha/Pkd1tm2Som
Tg(Cdh16-cre)91Igr/0
involves: 129 * 129S4/SvJae * C57BL/6 * ICR MGI:6317335
cn4
Mirc1tm1.1Tyj/Mirc1tm1.1Tyj
Pkd1tm1.1Pcha/Pkd1tm1.1Pcha
Tg(Cdh16-cre)91Igr/0
involves: 129 * 129S4/SvJae * C57BL/6 * ICR MGI:6317339
cn5
Pkd1tm1Som/Pkd1+
Prkcshtm1Som/Prkcshtm1Som
Tg(Cdh16-cre)91Igr/0
involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL MGI:5442311
cn6
Pkd2tm2Som/Pkd2+
Sec63tm1Som/Sec63tm1Som
Tg(Cdh16-cre)91Igr/0
involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL MGI:5442322
cn7
Pkd1tm1Som/Pkd1+
Sec63tm1Som/Sec63tm1Som
Tg(Cdh16-cre)91Igr/0
involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL MGI:5442321
cn8
Pkd2tm2Som/Pkd2+
Prkcshtm1Som/Prkcshtm1Som
Tg(Cdh16-cre)91Igr/0
involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL MGI:5442313
cn9
Sec63tm1Som/Sec63tm1Som
Tg(Pkd1)248Som/0
Tg(Cdh16-cre)91Igr/0
involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL/J MGI:5442320
cn10
Prkcshtm1Som/Prkcshtm1Som
Tg(Pkd1)248Som/0
Tg(Cdh16-cre)91Igr/0
involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL/J MGI:5442310
cn11
Prkcshtm1Som/Prkcshtm1Som
Sec63tm1.1Som/Sec63tm1.1Som
Tg(Cdh16-cre)91Igr/0
involves: 129 * C57BL/6 * ICR MGI:5442317
cn12
Sec63tm1Som/Sec63tm1Som
Tg(Cdh16-cre)91Igr/0
involves: 129 * C57BL/6 * ICR MGI:5442319
cn13
Prkcshtm1Som/Prkcshtm1Som
Tg(Cdh16-cre)91Igr/0
involves: 129 * C57BL/6 * ICR MGI:5442308
cn14
Bbs10tm1.1Vmar/Bbs10tm1.1Vmar
Tg(Cdh16-cre)91Igr/0
involves: 129P2/OlaHsd * C57BL/6 MGI:5792867
cn15
Trp53tm1Brn/Trp53tm1Brn
Tg(Cdh16-cre)91Igr/0
involves: 129P2/OlaHsd * C57BL/6J * FVB/N * ICR MGI:5604728
cn16
Col1a1tm2(tetO-LIN28B)Gqda/Col1a1+
Gt(ROSA)26Sortm1(rtTA,EGFP)Nagy/Gt(ROSA)26Sor+
Tg(Cdh16-cre)91Igr/0
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * ICR MGI:5638874
cn17
Kif3atm1Gsn/Kif3atm2Gsn
Tg(Cdh16-cre)91Igr/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * ICR MGI:5142310
cn18
Oxsr1tm1.1Ssy/Oxsr1tm1.1Ssy
Tg(Cdh16-cre)91Igr/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * ICR MGI:5297494
cn19
Ptentm1Hwu/Ptentm1Hwu
Tg(Cdh16-cre)91Igr/0
involves: 129S4/SvJae * BALB/c * C57BL/6J * ICR MGI:4943546
cn20
Vhltm1Jae/Vhltm1Jae
Tg(Cdh16-cre)91Igr/0
involves: 129S4/SvJae * BALB/c * C57BL/6J * ICR MGI:4943542
cn21
Ptentm1Hwu/Ptentm1Hwu
Vhltm1Jae/Vhltm1Jae
Tg(Cdh16-cre)91Igr/0
involves: 129S4/SvJae * BALB/c * C57BL/6J * ICR MGI:4943534
cn22
Pkd1tm2Som/Pkd1tm2Som
Tg(Cdh16-cre)91Igr/0
involves: 129S4/SvJae * C57BL/6 * ICR MGI:6317327
cn23
Tg(Cdh16-cre)91Igr/0
Tg(EIF1AX-Lin28a)#Gqda/0
involves: 129S4/SvJae * C57BL/6 * ICR MGI:5638875
cn24
Mirc1tm1.1Tyj/Mirc1tm1.1Tyj
Pkd1tm2Som/Pkd1tm2Som
Tg(Cdh16-cre)91Igr/0
involves: 129S4/SvJae * C57BL/6 * ICR MGI:6317328
cn25
Apctm1Tno/Apctm1Tno
Tg(Cdh16-cre)91Igr/0
involves: 129S4/SvJae * ICR MGI:5285852
cn26
Vhltm1Jae/Vhltm1Jae
Tg(Cdh16-cre)91Igr/0
involves: 129S4/SvJae * ICR MGI:4839498
cn27
Ptentm1Hwu/Ptentm1Hwu
Vhltm1Jae/Vhltm1Jae
Tg(Cdh16-cre)91Igr/0
involves: 129S4/SvJae * ICR MGI:4839497
cn28
Ptentm1Hwu/Ptentm1Hwu
Tg(Cdh16-cre)91Igr/0
involves: 129S4/SvJae * ICR MGI:4839499
cn29
Flcntm1Btt/Flcntm1Btt
Tg(Cdh16-cre)91Igr/0
involves: 129S4/SvJaeSor * C57BL/6 * ICR MGI:3829652
cn30
Exoc5tm1c(KOMP)Mbp/Exoc5tm1c(KOMP)Mbp
Tg(Cdh16-cre)91Igr/0
involves: 129S4/SvJaeSor * C57BL/6N * ICR MGI:5774940
cn31
Fh1tm1Pjp/Fh1tm1Pjp
Gt(ROSA)26Sortm2(CAG-FH*)Pjp/Gt(ROSA)26Sor+
Tg(Cdh16-cre)91Igr/0
involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * C57BL/6J * ICR MGI:5518536
cn32
Fh1tm1Pjp/Fh1tm1Pjp
Gt(ROSA)26Sortm1(CAG-FH)Pjp/Gt(ROSA)26Sor+
Tg(Cdh16-cre)91Igr/0
involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * C57BL/6J * ICR MGI:5518535
cn33
Ano1tm2Jrr/Ano1tm2Jrr
Tg(Cdh16-cre)91Igr/0
involves: 129S6/SvEvTac * ICR MGI:5569648
cn34
Fh1tm1Pjp/Fh1tm1Pjp
Tg(Cdh16-cre)91Igr/0
involves: 129X1/SvJ * ICR MGI:3711144
cn35
Ctnnb1tm1Mmt/Ctnnb1+
Tg(Cdh16-cre)91Igr/0
involves: 129X1/SvJ * ICR MGI:5428002
cn36
Ctnnb1tm1Mmt/Ctnnb1+
Wnt9btm1.1Amc/Wnt9btm1.2Amc
Tg(Cdh16-cre)91Igr/0
involves: 129X1/SvJ * ICR MGI:5428001
cn37
Wnt9btm1.1Amc/Wnt9btm1.2Amc
Tg(Cdh16-cre)91Igr/0
involves: 129X1/SvJ * ICR MGI:5427999
cn38
Sod2tm1Shs/Sod2+
Tg(Cdh16-cre)91Igr/0
involves: C57BL/6 * C57BL/6CrSlc MGI:5432218
cn39
Sod2tm1Shs/Sod2tm1Shs
Tg(Cdh16-cre)91Igr/0
involves: C57BL/6 * C57BL/6CrSlc MGI:5432217
cn40
Flcntm1Baba/Flcntm1.1Lss
Tg(Cdh16-cre)91Igr/0
involves: C57BL/6 * FVB/N * ICR * SJL MGI:3776087
cn41
Fnip2tm1.1Lss/Fnip2tm1.1Lss
Tg(Cdh16-cre)91Igr/0
involves: C57BL/6 * ICR MGI:5897111
cn42
Fnip1tm1.1Baba/Fnip1tm1.1Baba
Tg(Cdh16-cre)91Igr/0
involves: C57BL/6 * ICR MGI:5897110
cn43
Flcntm1Baba/Flcntm1Baba
Fnip1tm1.1Baba/Fnip1tm1.1Baba
Fnip2tm1.1Lss/Fnip2tm1.1Lss
Tg(Cdh16-cre)91Igr/0
involves: C57BL/6 * ICR MGI:5897115
cn44
Kltm1.1Tel/Kltm1.1Tel
Tg(Cdh16-cre)91Igr/0
involves: C57BL/6 * ICR MGI:5515392
cn45
Rhcgtm1Idw/Rhcgtm1Idw
Tg(Cdh16-cre)91Igr/0
involves: C57BL/6 * ICR MGI:3836439
cn46
Fnip1tm1.1Baba/Fnip1tm1.1Baba
Fnip2tm1.1Lss/Fnip2tm1.1Lss
Tg(Cdh16-cre)91Igr/0
involves: C57BL/6 * ICR MGI:5897114
cn47
Pkd1tm2Som/Pkd1tm2Som
Tg(Cdh16-cre)91Igr/0
involves: C57BL/6 * ICR * SJL MGI:3795670
cn48
Pkd1tm2Som/Pkd1tm2.1Som
Tg(Cdh16-cre)91Igr/0
involves: C57BL/6 * ICR * SJL MGI:3795669
cn49
Cldn10tm1.1Dmu/Cldn10tm1.1Dmu
Tg(Cdh16-cre)91Igr/0
involves: C57BL/6 * ICR * SJL MGI:5444005
cn50
Arl13btm1c(EUCOMM)Wtsi/Arl13btm1c(EUCOMM)Wtsi
Tg(Cdh16-cre)91Igr/0
involves: C57BL/6J * C57BL/6N * ICR MGI:6115594
cx51
Pkd1tm1.1Pcha/Pkd1tm1.1Pcha
Tg(Cdh16-cre)91Igr/0
involves: 129 * 129S4/SvJae * C57BL/6 * ICR MGI:6317338


Genotype
MGI:6241512
cn1
Allelic
Composition
Abcc6tm1c(EUCOMM)Wtsi/Abcc6tm1c(EUCOMM)Wtsi
Tg(Cdh16-cre)91Igr/?
Genetic
Background
B6.Cg-Abcc6tm1c(EUCOMM)Wtsi Tg(Cdh16-cre)91Igr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcc6tm1c(EUCOMM)Wtsi mutation (1 available); any Abcc6 mutation (47 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
integument
N
• no calcification occurs in the fibrous capsule surrounding the muzzle vibrissae




Genotype
MGI:6317334
cn2
Allelic
Composition
Pkd1tm1.1Pcha/Pkd1tm2Som
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129 * 129S4/SvJae * C57BL/6 * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1tm1.1Pcha mutation (0 available); any Pkd1 mutation (101 available)
Pkd1tm2Som mutation (0 available); any Pkd1 mutation (101 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• median survival is 206 days

renal/urinary system
• mice develop polycystic kidney disease
• mice show impaired renal function
• increase in cyst epithelial cell proliferation

cellular
• the number of peroxisomes is decreased in kidney cysts
• increase in cyst epithelial cell proliferation
• fatty acid oxidation is decreased in kidneys
• reactive oxidative species level is increased in the kidneys

homeostasis/metabolism
• fatty acid oxidation is decreased in kidneys
• levels are increased at 3, 7, and 15 weeks of age

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




Genotype
MGI:6317335
cn3
Allelic
Composition
Mirc1tm1.1Tyj/Mirc1tm1.1Tyj
Pkd1tm1.1Pcha/Pkd1tm2Som
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129 * 129S4/SvJae * C57BL/6 * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mirc1tm1.1Tyj mutation (1 available); any Mirc1 mutation (6 available)
Pkd1tm1.1Pcha mutation (0 available); any Pkd1 mutation (101 available)
Pkd1tm2Som mutation (0 available); any Pkd1 mutation (101 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
N
• renal function and renal interstitial fibrosis are improved compared to conditional Pkd1 compound heterozygotes and mice live past 1 year of age
• mice show a decrease in cyst epithelial cell proliferation compared to conditional Pkd1 compound heterozygotes
• kidney weight is reduced compared to conditional Pkd1 compound heterozygotes
• cyst size is reduced compared to conditional Pkd1 compound heterozygotes

cellular
• the number of peroxisomes in the kidneys is reduced compared to conditional Pkd1 compound heterozygotes
• mice show a decrease in cyst epithelial cell proliferation compared to conditional Pkd1 compound heterozygotes
• fatty acid oxidation is increased in kidneys compared to conditional Pkd1 compound heterozygotes
• reactive oxidative species level is decreased in the kidneys compared to conditional Pkd1 compound heterozygotes

homeostasis/metabolism
• fatty acid oxidation is increased in kidneys compared to conditional Pkd1 compound heterozygotes
• mice show decreased levels at 3, 7, and 15 weeks of age compared to conditional Pkd1 compound heterozygotes




Genotype
MGI:6317339
cn4
Allelic
Composition
Mirc1tm1.1Tyj/Mirc1tm1.1Tyj
Pkd1tm1.1Pcha/Pkd1tm1.1Pcha
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129 * 129S4/SvJae * C57BL/6 * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mirc1tm1.1Tyj mutation (1 available); any Mirc1 mutation (6 available)
Pkd1tm1.1Pcha mutation (0 available); any Pkd1 mutation (101 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
N
• mice exhibit attenuated cyst growth and reduced renal fibrosis compared to single Pkd1tm1.1Pcha homozygotes

homeostasis/metabolism
• mice exhibit lower blood urea nitrogen (BUN) levels compared to single Pkd1tm1.1Pcha homozygotes




Genotype
MGI:5442311
cn5
Allelic
Composition
Pkd1tm1Som/Pkd1+
Prkcshtm1Som/Prkcshtm1Som
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1tm1Som mutation (0 available); any Pkd1 mutation (101 available)
Prkcshtm1Som mutation (0 available); any Prkcsh mutation (23 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body

renal/urinary system
• increased apoptosis in cysts compared to in cysts from Prkcshtm1Som/Prkcshtm1Som Tg(Cdh16-cre)91Igr mice
• increased cell proliferation in cysts compared to in cysts from Prkcshtm1Som/Prkcshtm1Som Tg(Cdh16-cre)91Igr mice
• dilated to a lesser extent than collecting tubules
• more severe than in Prkcshtm1Som/Prkcshtm1Som Tg(Cdh16-cre)91Igr mice
• collecting ducts form larger cysts than in Prkcshtm1Som/Prkcshtm1Som Tg(Cdh16-cre)91Igr mice
• cysts exhibit increased proliferation and apoptosis compared with cysts from Prkcshtm1Som/Prkcshtm1Som 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

cellular
• increased apoptosis in cysts compared to in cysts from Prkcshtm1Som/Prkcshtm1Som Tg(Cdh16-cre)91Igr mice
• increased cell proliferation in cysts compared to in cysts from Prkcshtm1Som/Prkcshtm1Som Tg(Cdh16-cre)91Igr mice

homeostasis/metabolism




Genotype
MGI:5442322
cn6
Allelic
Composition
Pkd2tm2Som/Pkd2+
Sec63tm1Som/Sec63tm1Som
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd2tm2Som mutation (0 available); any Pkd2 mutation (16 available)
Sec63tm1Som mutation (0 available); any Sec63 mutation (29 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system

homeostasis/metabolism




Genotype
MGI:5442321
cn7
Allelic
Composition
Pkd1tm1Som/Pkd1+
Sec63tm1Som/Sec63tm1Som
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1tm1Som mutation (0 available); any Pkd1 mutation (101 available)
Sec63tm1Som mutation (0 available); any Sec63 mutation (29 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body

renal/urinary system
• increased apoptosis in cysts compared to in cysts from Sec63tm1Som/Sec63tm1Som Tg(Cdh16-cre)91Igr mice
• increased cell proliferation in cysts compared to in cysts from Sec63tm1Som/Sec63tm1Som Tg(Cdh16-cre)91Igr mice
• dilated to a lesser extent than collecting tubules
• more severe than in Sec63tm1Som/Sec63tm1Som Tg(Cdh16-cre)91Igr mice
• collecting duct forms larger cysts than in Sec63tm1Som/Sec63tm1Som Tg(Cdh16-cre)91Igr mice
• cysts exhibit increased proliferation and apoptosis compared with cysts from Prkcshtm1Som/Prkcshtm1Som Tg(Cdh16-cre)91Igr mice

cellular
• increased apoptosis in cysts compared to in cysts from Sec63tm1Som/Sec63tm1Som Tg(Cdh16-cre)91Igr mice
• increased cell proliferation in cysts compared to in cysts from Sec63tm1Som/Sec63tm1Som Tg(Cdh16-cre)91Igr mice

homeostasis/metabolism




Genotype
MGI:5442313
cn8
Allelic
Composition
Pkd2tm2Som/Pkd2+
Prkcshtm1Som/Prkcshtm1Som
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd2tm2Som mutation (0 available); any Pkd2 mutation (16 available)
Prkcshtm1Som mutation (0 available); any Prkcsh mutation (23 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body

renal/urinary system
• more severe than in Prkcshtm1Som/Prkcshtm1Som Tg(Cdh16-cre)91Igr mice

homeostasis/metabolism




Genotype
MGI:5442320
cn9
Allelic
Composition
Sec63tm1Som/Sec63tm1Som
Tg(Pkd1)248Som/0
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sec63tm1Som mutation (0 available); any Sec63 mutation (29 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
Tg(Pkd1)248Som mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• mild at P45




Genotype
MGI:5442310
cn10
Allelic
Composition
Prkcshtm1Som/Prkcshtm1Som
Tg(Pkd1)248Som/0
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prkcshtm1Som mutation (0 available); any Prkcsh mutation (23 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
Tg(Pkd1)248Som mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• mild at 6 months
• mild at 6 months




Genotype
MGI:5442317
cn11
Allelic
Composition
Prkcshtm1Som/Prkcshtm1Som
Sec63tm1.1Som/Sec63tm1.1Som
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129 * C57BL/6 * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prkcshtm1Som mutation (0 available); any Prkcsh mutation (23 available)
Sec63tm1.1Som mutation (0 available); any Sec63 mutation (29 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
liver/biliary system
• more severe than in either single conditional knock-outs




Genotype
MGI:5442319
cn12
Allelic
Composition
Sec63tm1Som/Sec63tm1Som
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129 * C57BL/6 * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sec63tm1Som mutation (0 available); any Sec63 mutation (29 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• by P60 associated with kidney cysts

renal/urinary system
• dilated to a lesser extent than collecting tubules
• 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

homeostasis/metabolism




Genotype
MGI:5442308
cn13
Allelic
Composition
Prkcshtm1Som/Prkcshtm1Som
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129 * C57BL/6 * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prkcshtm1Som mutation (0 available); any Prkcsh mutation (23 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• by 6 months associated with kidney cysts

renal/urinary system
• dilated to a lesser extent than collecting tubules
• 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
Bbs10tm1.1Vmar/Bbs10tm1.1Vmar
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bbs10tm1.1Vmar mutation (0 available); any Bbs10 mutation (0 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
N
• 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
Trp53tm1Brn/Trp53tm1Brn
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J * FVB/N * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Cdh16-cre)91Igr mutation (1 available)
Trp53tm1Brn mutation (14 available); any Trp53 mutation (154 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• 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)
• 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
• 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
• 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
Col1a1tm2(tetO-LIN28B)Gqda/Col1a1+
Gt(ROSA)26Sortm1(rtTA,EGFP)Nagy/Gt(ROSA)26Sor+
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col1a1tm2(tetO-LIN28B)Gqda mutation (1 available); any Col1a1 mutation (133 available)
Gt(ROSA)26Sortm1(rtTA,EGFP)Nagy mutation (3 available); any Gt(ROSA)26Sor mutation (540 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
N
• no kidney pathology is seen in mice induced with doxycycline




Genotype
MGI:5142310
cn17
Allelic
Composition
Kif3atm1Gsn/Kif3atm2Gsn
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kif3atm1Gsn mutation (1 available); any Kif3a mutation (6 available)
Kif3atm2Gsn mutation (1 available); any Kif3a mutation (6 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Polycystic kideny disease in Kif3atm1Gsn/Kif3atm2Gsn Tg(Cdh16-cre)91Igr/0 mutant mice

behavior/neurological
• mice exhibit lethargy by P35

growth/size/body
• mice display growth retardation by P35
• at P28, mutant kidneys are grossly enlarged

renal/urinary system
• 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
• cyst epithelial cells display increased apoptosis
• at P28, mutant kidneys are grossly enlarged
• advanced kidney cysts are surrounded by areas of interstitial fibrosis
• advanced kidney cysts are surrounded by atrophic tubules
• 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
• cysts are first noted at P5 as fusiform dilatations of the collecting ducts in the renal medulla
• by P35, the renal parenchyma is entirely replaced with multiple, large fluid-filled cysts
• mice exhibit renal failure by P21

homeostasis/metabolism
• mice exhibit a rapid increase in BUN levels after P14

cellular
• 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
• cyst epithelial cells display increased apoptosis

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
polycystic kidney disease 1 DOID:0110858 OMIM:173900
J:83293




Genotype
MGI:5297494
cn18
Allelic
Composition
Oxsr1tm1.1Ssy/Oxsr1tm1.1Ssy
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Oxsr1tm1.1Ssy mutation (0 available); any Oxsr1 mutation (17 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• increase in fractional excretion of potassium on both a normal chow and low potassium diet
• elevated urine sodium excretion after 2 - 4 days on a low sodium diet compared to diet matched wild-type controls
• ambient osmolarity of spot urine is significantly reduced
• blunted diuretic response to furosemide

homeostasis/metabolism
• on both a normal chow and low potassium diet
• increase in fractional excretion of potassium on both a normal chow and low potassium diet
• elevated urine sodium excretion after 2 - 4 days on a low sodium diet compared to diet matched wild-type controls
• ambient osmolarity of spot urine is significantly reduced

cardiovascular system
• 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:4943546
cn19
Allelic
Composition
Ptentm1Hwu/Ptentm1Hwu
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129S4/SvJae * BALB/c * C57BL/6J * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptentm1Hwu mutation (5 available); any Pten mutation (39 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
N
• mutants do not develop hydronephrosis
• hyperproliferation and enlarged epithelial cells in the ureter
• hyperproliferation and enlarged epithelial cells in the bladder




Genotype
MGI:4943542
cn20
Allelic
Composition
Vhltm1Jae/Vhltm1Jae
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129S4/SvJae * BALB/c * C57BL/6J * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Cdh16-cre)91Igr mutation (1 available)
Vhltm1Jae mutation (2 available); any Vhl mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• 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
Ptentm1Hwu/Ptentm1Hwu
Vhltm1Jae/Vhltm1Jae
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129S4/SvJae * BALB/c * C57BL/6J * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptentm1Hwu mutation (5 available); any Pten mutation (39 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
Vhltm1Jae mutation (2 available); any Vhl mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• males and females exhibit enlarged and heavier kidneys due to epithelial tubule cysts

renal/urinary system
• cysts exhibit a 3- to 6-fold increase in the number of Ki-67-positive kidney epithelial cells per mm2 of cortex
• males and females exhibit enlarged and heavier kidneys due to epithelial tubule cysts
• 3 of 14 mice show isolated regions of benign squamous metaplasia within the kidney cortex
• kidney epithelial cells fail to maintain their primary cilia, resulting in uncontrolled proliferation and cyst formation
• 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
• hyperproliferation of the urothelium in the renal pelvis is more pronounced than in single Pten mutants
• 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
• mutants develop multiple epithelial tubule cysts in the kidney cortex
• mutants develop multiple epithelial tubule cysts in the kidney medulla

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

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

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




Genotype
MGI:6317327
cn22
Allelic
Composition
Pkd1tm2Som/Pkd1tm2Som
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1tm2Som mutation (0 available); any Pkd1 mutation (101 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• median survival is 14 days, with mice starting to die around 10 days and most die by 20 days of age

renal/urinary system
• increase in cyst epithelial cell proliferation
• mice develop an early-onset and rapidly fatal form of polycystic kidney disease

cellular
• increase in cyst epithelial cell proliferation

homeostasis/metabolism

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
cn23
Allelic
Composition
Tg(Cdh16-cre)91Igr/0
Tg(EIF1AX-Lin28a)#Gqda/0
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Cdh16-cre)91Igr mutation (1 available)
Tg(EIF1AX-Lin28a)#Gqda mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
N
• mice do not develop renal tumors




Genotype
MGI:6317328
cn24
Allelic
Composition
Mirc1tm1.1Tyj/Mirc1tm1.1Tyj
Pkd1tm2Som/Pkd1tm2Som
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mirc1tm1.1Tyj mutation (1 available); any Mirc1 mutation (6 available)
Pkd1tm2Som mutation (0 available); any Pkd1 mutation (101 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice exhibit a median survival of 21 days which is a 50% improvement compared to single Pkd1 conditional mutants

renal/urinary system
• the number of proliferating cyst epithelial cells is reduced by 78.7% compared to single Pkd1 conditional mutants
• mice exhibit a 26.8% reduction in kidney-weight-to-body-weight ratio compared to single Pkd1 conditional mutants

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

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




Genotype
MGI:5285852
cn25
Allelic
Composition
Apctm1Tno/Apctm1Tno
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129S4/SvJae * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apctm1Tno mutation (6 available); any Apc mutation (59 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• rare mice that survive to adulthood become moribund at 8-12 weeks of age
• most mice die within 2-3 days of birth
• only 6 of 540 mice survive to weaning age

renal/urinary system
• at 8 weeks of age, kidneys are severely enlarged
• 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
• 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
• at 8 weeks of age, 6 of 6 mice display severe polycystic kidney disease

growth/size/body
• rare mice that survive to adulthood weigh 3-4 grams less than control littermates
• at 8 weeks of age, kidneys are severely enlarged

homeostasis/metabolism
• 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
• 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:4839498
cn26
Allelic
Composition
Vhltm1Jae/Vhltm1Jae
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129S4/SvJae * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Cdh16-cre)91Igr mutation (1 available)
Vhltm1Jae mutation (2 available); any Vhl mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• aberrant presence of dilated blood capillaries surrounding epididymal tubules indicating increased vascularization
• however, the genital tracts of males and females look normal




Genotype
MGI:4839497
cn27
Allelic
Composition
Ptentm1Hwu/Ptentm1Hwu
Vhltm1Jae/Vhltm1Jae
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129S4/SvJae * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptentm1Hwu mutation (5 available); any Pten mutation (39 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
Vhltm1Jae mutation (2 available); any Vhl mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• tumors contain regions of cystadenoma characterized by adenoid structures identical to human cystadenoma lesions arising in epididymides
• cystadenoma display clear cell morphology
• cysts and squamous epithelial hyperplasia in the oviduct
• females exhibit hyperplasia and full squamous differentiation of the uterine endometrial lumen, endometrial hyperplasia, and endometrial hyperplasia with cyst formation
• cysts and squamous epithelial hyperplasia in the cervix
• squamous metaplasia is seen in the epididymis
• vascularization is increased in the epididymides

neoplasm
• 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
• 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
• 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:4839499
cn28
Allelic
Composition
Ptentm1Hwu/Ptentm1Hwu
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129S4/SvJae * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ptentm1Hwu mutation (5 available); any Pten mutation (39 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• epithelial hyperplasia in vesicular glands

reproductive system
• genital tissues are enlarged
• epithelial hyperplasia in vesicular glands
• endometrial hyperplasia is accompanied by partial squamous differentiation
• hyperplasia of the endometrial glands and lumen
• epithelial hyperplasia in epididymis
• epithelial hyperplasia in vas deferens

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




Genotype
MGI:3829652
cn29
Allelic
Composition
Flcntm1Btt/Flcntm1Btt
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129S4/SvJaeSor * C57BL/6 * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Flcntm1Btt mutation (1 available); any Flcn mutation (26 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• kidney weight is increased 10 fold compared to controls

mortality/aging
• 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
• seen in late stages of kidney failure
• kidney weight is increased 10 fold compared to controls
• hyperplasia and renal cell carcinoma are seen by P18
• cystic renal cell carcinoma is frequently seen in extremely enlarged kidneys
• extremely dilated tubules, predominantly originating from the collecting ducts
• atrophic, compressed glomeruli are seen
• hyperplastic areas with multiple layers of epithelial cells are seen along the inner surface of tubules
• some proximal tubules are highly to moderately dilated
• develop bilateral polycystic kidneys
• by 3 weeks of age

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

neoplasm
• hyperplasia and renal cell carcinoma are seen by P18
• cystic renal cell carcinoma is frequently seen in extremely enlarged kidneys

cardiovascular system
• seen in late stages of kidney failure




Genotype
MGI:5774940
cn30
Allelic
Composition
Exoc5tm1c(KOMP)Mbp/Exoc5tm1c(KOMP)Mbp
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129S4/SvJaeSor * C57BL/6N * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Exoc5tm1c(KOMP)Mbp mutation (0 available); any Exoc5 mutation (1 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 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
N
• no apoptosis is detected in collecting duct epithelia
• severe bilateral in dead newborn mice (J:226950)
• however, mice that survive beyond the first day do not exhibit hydronephrosis (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
• uroplakin plaques are completely missing on the luminal surface of E17.5 ureters
• increased proliferation rates by E17.5
• 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)
• 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)
• 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)
• in newborn mice

cardiovascular system
• heart distention in mice that die after birth
• 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
Fh1tm1Pjp/Fh1tm1Pjp
Gt(ROSA)26Sortm2(CAG-FH*)Pjp/Gt(ROSA)26Sor+
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * C57BL/6J * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fh1tm1Pjp mutation (0 available); any Fh1 mutation (23 available)
Gt(ROSA)26Sortm2(CAG-FH*)Pjp mutation (0 available); any Gt(ROSA)26Sor mutation (540 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
N
• urea cycle metabolism is rescued

renal/urinary system
N
• kidney size and morphology are rescued




Genotype
MGI:5518535
cn32
Allelic
Composition
Fh1tm1Pjp/Fh1tm1Pjp
Gt(ROSA)26Sortm1(CAG-FH)Pjp/Gt(ROSA)26Sor+
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129S6/SvEvTac * 129X1/SvJ * C57BL/6 * C57BL/6J * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fh1tm1Pjp mutation (0 available); any Fh1 mutation (23 available)
Gt(ROSA)26Sortm1(CAG-FH)Pjp mutation (0 available); any Gt(ROSA)26Sor mutation (540 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
N
• urea cycle metabolism is rescued

renal/urinary system
N
• kidney size and morphology are rescued




Genotype
MGI:5569648
cn33
Allelic
Composition
Ano1tm2Jrr/Ano1tm2Jrr
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129S6/SvEvTac * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ano1tm2Jrr mutation (0 available); any Ano1 mutation (5 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• at 8 to 12 weeks
• at 8 to 12 weeks
• at P1
• however, this difference faded as animals age
• macro-albuminuria
• 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
• at 8 to 12 weeks
• at 8 to 12 weeks
• at P1
• however, this difference faded as animals age
• macro-albuminuria




Genotype
MGI:3711144
cn34
Allelic
Composition
Fh1tm1Pjp/Fh1tm1Pjp
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129X1/SvJ * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fh1tm1Pjp mutation (0 available); any Fh1 mutation (23 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body

homeostasis/metabolism
• mice accumulate fumarate, argininosuccinate and citrulline in the kidneys whereas aspartate is depleted
• cysts occasionally show lack of cytochrome c oxidase activity

renal/urinary system
• mice accumulate fumarate, argininosuccinate and citrulline in the kidneys whereas aspartate is depleted
• occasionally sclerotic glomeruli are seen in tubules
• some tubules are lined by vacuolated epithelium containing proteinaceous debris, but most have small amounts of eosinophilic secretion
• mild hydronephrosis is seen in mice >14 months old
• 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)
• at cortico-medullary junction, kidneys display extensive cytic changes; these irregular cysts are lined with cuboidal epithelium
• some mice develop polyuric renal failure at 8 months of age

cellular
• 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
• in mouse embryonic fibroblasts




Genotype
MGI:5428002
cn35
Allelic
Composition
Ctnnb1tm1Mmt/Ctnnb1+
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129X1/SvJ * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctnnb1tm1Mmt mutation (0 available); any Ctnnb1 mutation (24 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

renal/urinary system
• mild at birth




Genotype
MGI:5428001
cn36
Allelic
Composition
Ctnnb1tm1Mmt/Ctnnb1+
Wnt9btm1.1Amc/Wnt9btm1.2Amc
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129X1/SvJ * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctnnb1tm1Mmt mutation (0 available); any Ctnnb1 mutation (24 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
Wnt9btm1.1Amc mutation (0 available); any Wnt9b mutation (16 available)
Wnt9btm1.2Amc mutation (1 available); any Wnt9b mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• cystic index at P1 is increased compared to in Wnt9btm1.1Amc/Wnt9btm1.2Amc Tg(Cdh16-cre)91Igr mice




Genotype
MGI:5427999
cn37
Allelic
Composition
Wnt9btm1.1Amc/Wnt9btm1.2Amc
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129X1/SvJ * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Cdh16-cre)91Igr mutation (1 available)
Wnt9btm1.1Amc mutation (0 available); any Wnt9b mutation (16 available)
Wnt9btm1.2Amc mutation (1 available); any Wnt9b mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most mice die between P30 and P45 with no mice surviving past P60

renal/urinary system
• collecting duct epithelial cells exhibit randomized elongation unlike in wild-type mice
• at P5, epithelium cell divisions are not oriented within the plane of the epithelium unlike in control mice
• by P30, little normal epithelia remains
• delayed compared to in Wnt9btm1Amc 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




Genotype
MGI:5432218
cn38
Allelic
Composition
Sod2tm1Shs/Sod2+
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: C57BL/6 * C57BL/6CrSlc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sod2tm1Shs mutation (0 available); any Sod2 mutation (16 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• mice show prominent epithelial cell swelling in the dilated distal tubules

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




Genotype
MGI:5432217
cn39
Allelic
Composition
Sod2tm1Shs/Sod2tm1Shs
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: C57BL/6 * C57BL/6CrSlc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sod2tm1Shs mutation (0 available); any Sod2 mutation (16 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• mice exhibit no overt survival difference up to ~22 months of age relative to controls

growth/size/body
• 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
N
• mice exhibit no overt decrease in renal function, as measured by serum creatinine levels
• mice show prominent epithelial cell swelling in the dilated distal tubules
• mice exhibit dilated distal tubules within the cortex region relative to controls
• 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
• 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
N
• mice exhibit normal blood glucose levels relative to controls
• no significant difference in serum creatinine levels relative to controls

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




Genotype
MGI:3776087
cn40
Allelic
Composition
Flcntm1Baba/Flcntm1.1Lss
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: C57BL/6 * FVB/N * ICR * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Flcntm1.1Lss mutation (0 available); any Flcn mutation (26 available)
Flcntm1Baba mutation (0 available); any Flcn mutation (26 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• treatment of mice with rapamycin extends lifespan nearly 2-fold, but all animals die of renal failure
• animals appear normal at birth, but develop distended abdomens and die around 3 weeks of age from renal failure

growth/size/body
• by 2 weeks, mice display distended abdomens which are very pronounced at time of death
• at time of death, enlarged kidneys fill abdominal cavity; penetrance of phenotype is 100%
• enlargement begins at 1 week due to collecting duct dilation
• between P7 and P21, kidney to body weight ratio (under wet and dried conditions) dramatically increases relative to littermate controls

renal/urinary system
• kidneys have fine reticular pattern of interstitial tissue containing numerous blood vessels, not observed in control kidneys
• in culture, tubule cells show much higher proliferation rate than control cells
• at time of death, enlarged kidneys fill abdominal cavity; penetrance of phenotype is 100%
• enlargement begins at 1 week due to collecting duct dilation
• between P7 and P21, kidney to body weight ratio (under wet and dried conditions) dramatically increases relative to littermate controls
• by 2 weeks, lumens of ducts are cystic
• at 3 weeks, collecting ducts in the medulla and extending into the papilla are severely cystic
• by 1 week of age, dilation of collecting ducts is observed
• anatomical distinction between cortex and medulla is disrupted
• regions of pyramidal infarctions are observed at 3 weeks
• by 2 weeks, lumens of tubules are cystic
• most cells lining the tubules are hypertrophic with enlarged nuclei and cytoplasm; many cells ar hyperplastic
• by 2 weeks, lumens of tubules are cystic
• at 3 weeks, kidneys are markedly cystic
• occurs around 3 weeks of age

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

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

cellular
• 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:5897111
cn41
Allelic
Composition
Fnip2tm1.1Lss/Fnip2tm1.1Lss
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: C57BL/6 * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fnip2tm1.1Lss mutation (0 available); any Fnip2 mutation (41 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
N
• no kidney phenotypes detected




Genotype
MGI:5897110
cn42
Allelic
Composition
Fnip1tm1.1Baba/Fnip1tm1.1Baba
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: C57BL/6 * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fnip1tm1.1Baba mutation (0 available); any Fnip1 mutation (39 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• occasional tiny cysts




Genotype
MGI:5897115
cn43
Allelic
Composition
Flcntm1Baba/Flcntm1Baba
Fnip1tm1.1Baba/Fnip1tm1.1Baba
Fnip2tm1.1Lss/Fnip2tm1.1Lss
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: C57BL/6 * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Flcntm1Baba mutation (0 available); any Flcn mutation (26 available)
Fnip1tm1.1Baba mutation (0 available); any Fnip1 mutation (39 available)
Fnip2tm1.1Lss mutation (0 available); any Fnip2 mutation (41 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• no increase in severity of phenotype compared to mutant mice wild-type for Flcn

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




Genotype
MGI:5515392
cn44
Allelic
Composition
Kltm1.1Tel/Kltm1.1Tel
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: C57BL/6 * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kltm1.1Tel mutation (0 available); any Kl mutation (36 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
N
• 1,25(OH)2D calcium and creatinine levels are normal
• in mice are fed a high phosphate diet
• in mice fed standard chow
• more so when mice are fed a high phosphate diet

renal/urinary system




Genotype
MGI:3836439
cn45
Allelic
Composition
Rhcgtm1Idw/Rhcgtm1Idw
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: C57BL/6 * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rhcgtm1Idw mutation (1 available); any Rhcg mutation (1 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
phenotype not analyzed
• only used to confirm absence of protein expression in collecting ducts




Genotype
MGI:5897114
cn46
Allelic
Composition
Fnip1tm1.1Baba/Fnip1tm1.1Baba
Fnip2tm1.1Lss/Fnip2tm1.1Lss
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: C57BL/6 * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fnip1tm1.1Baba mutation (0 available); any Fnip1 mutation (39 available)
Fnip2tm1.1Lss mutation (0 available); any Fnip2 mutation (41 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body

mortality/aging
• survival time is about 3 weeks

renal/urinary system

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




Genotype
MGI:3795670
cn47
Allelic
Composition
Pkd1tm2Som/Pkd1tm2Som
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: C57BL/6 * ICR * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1tm2Som mutation (0 available); any Pkd1 mutation (101 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• an increased kidney weight to body weight ratio is observed at day 4 and increases rapidly thereafter

mortality/aging
• mice die between P14 and P17 of renal failure

renal/urinary system
• at P7, proliferation of the cyst lining cells in the kidney is increased compared to in wild-type mice
• an increased kidney weight to body weight ratio is observed at day 4 and increases rapidly thereafter
• mice exhibit a rapid progression of polycystic disease
• mice die between P14 and P17 of renal failure

homeostasis/metabolism
• the rapid increase in blood urea nitrogen level is associated with the cystic enlargement of the kidneys
• at two weeks of age




Genotype
MGI:3795669
cn48
Allelic
Composition
Pkd1tm2Som/Pkd1tm2.1Som
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: C57BL/6 * ICR * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1tm2.1Som mutation (0 available); any Pkd1 mutation (101 available)
Pkd1tm2Som mutation (0 available); any Pkd1 mutation (101 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• an increased kidney weight to body weight ratio is observed at day 4 and increases rapidly thereafter

mortality/aging
• mice die between P14 and P17 of renal failure

renal/urinary system
• at P7, proliferation of the cyst lining cells in the kidney is increased compared to in wild-type mice
• an increased kidney weight to body weight ratio is observed at day 4 and increases rapidly thereafter
• mice exhibit a rapid progression of polycystic disease
• mice die between P14 and P17 of renal failure

homeostasis/metabolism
• the rapid increase in blood urea nitrogen level is associated with the cystic enlargement of the kidneys
• at two weeks of age

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




Genotype
MGI:5444005
cn49
Allelic
Composition
Cldn10tm1.1Dmu/Cldn10tm1.1Dmu
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: C57BL/6 * ICR * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cldn10tm1.1Dmu mutation (0 available); any Cldn10 mutation (2 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Nephrocalcinosis in Cldn10tm1.1Dmu/Cldn10tm1.1Dmu Tg(Cdh16-cre)91Igr/0 kidneys

renal/urinary system
• increase in K+ fractional excretion
• slight decrease in fractional excretion of Ca2+
• however, serum calcium levels are not increased
• fractional excretion of Mg2+ is only 52% of controls
• parallels increased urine volume
• 1.4 fold lower fractional excretion of urea
• 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
• in freshly isolated tubule thick ascending limbs the permeability sequence for different cations are altered from monovalent to divalent
• increase in Mg2+ reabsorbtion
• moderate

behavior/neurological
• moderate

homeostasis/metabolism
• 1.4 fold higher serum urea concentration
• increase in K+ fractional excretion
• slight decrease in fractional excretion of Ca2+
• however, serum calcium levels are not increased
• fractional excretion of Mg2+ is only 52% of controls
• parallels increased urine volume
• 1.4 fold lower fractional excretion of urea




Genotype
MGI:6115594
cn50
Allelic
Composition
Arl13btm1c(EUCOMM)Wtsi/Arl13btm1c(EUCOMM)Wtsi
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: C57BL/6J * C57BL/6N * ICR
Cell Lines EPD0065_5_C03
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Arl13btm1c(EUCOMM)Wtsi mutation (0 available); any Arl13b mutation (5 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• 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
• 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

mortality/aging
• mice die at around P60

renal/urinary system
• at P14, most DBA-positive collecting duct epithelial cells are devoid of cilia, indicating a cilia biogenesis defect
• 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
• 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
• 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
• 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
• 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
• significant cysts in the cortex region at P14
• significant cysts in the medulla region at P14
• 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
• 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
• 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
• mice develop rapidly progressive renal failure

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




Genotype
MGI:6317338
cx51
Allelic
Composition
Pkd1tm1.1Pcha/Pkd1tm1.1Pcha
Tg(Cdh16-cre)91Igr/0
Genetic
Background
involves: 129 * 129S4/SvJae * C57BL/6 * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1tm1.1Pcha mutation (0 available); any Pkd1 mutation (101 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• mice exhibit slow cyst growth
• mice develop renal fibrosis

homeostasis/metabolism





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last database update
11/10/2020
MGI 6.16
The Jackson Laboratory