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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Pkd1tm1Som
targeted mutation 1, Stefan Somlo
MGI:3793793
Summary 7 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Pkd1tm1Som/Pkd1tm1Som involves: 129/Sv * C57BL/6 * SJL MGI:3795604
ht2
 		Pkd1tm1Som/Pkd1+ involves: 129/Sv * C57BL/6 * SJL MGI:3795607
cn3
 		Pkd1tm1Som/Pkd1+
Prkcshtm1Som/Prkcshtm1Som
Tg(Cdh16-cre)91Igr/0 		involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL MGI:5442311
cn4
 		Pkd1tm1Som/Pkd1+
Sec63tm1Som/Sec63tm1Som
Tg(Cdh16-cre)91Igr/0 		involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL MGI:5442321
cn5
 		Pkd1tm1Som/Pkd1tm2Som
Tg(Cdh16-cre/ERT2)24Igr/? 		involves: 129/Sv * C57BL/6 * SJL MGI:5430908
cx6
 		Pkd1tm1Som/Pkd1+
Pkd2tm2Som/Pkd2+ 		involves: 129/Sv * C57BL/6 * SJL MGI:3795605
cx7
 		Pkd1tm1Som/Pkd1+
Tg(Pkd1*)39Mtru/0 		involves: 129/Sv * C57BL/6J * CBA/J * SJL MGI:5546346


Genotype
MGI:3795604
hm1
Allelic
Composition		 Pkd1tm1Som/Pkd1tm1Som
Genetic
Background		 involves: 129/Sv * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1tm1Som mutation (0 available); any Pkd1 mutation (153 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
neonatal lethality, complete penetrance ( J:78422 )
• 3 mice that are born die immediately after birth
embryonic lethality during organogenesis, incomplete penetrance ( J:78422 )
• mice begin to die at E12.5 and most are dead by E16.5

renal/urinary system
kidney cyst ( J:78422 )
• at E14.5, all surviving embryos exhibit diffuse hemorrhages

endocrine/exocrine glands
pancreas cyst ( J:78422 )
• at E14.5

cardiovascular system
cardiovascular system phenotype ( J:78422 )
N
• unlike in Pkd2tm1Som mice, cardiac septation is normal
hemorrhage ( J:78422 )
• at E14.5, all surviving embryos exhibit diffuse hemorrhages

growth/size/body
decreased embryo size ( J:78422 )
• 3 small and pale mice are born but die immediately
pancreas cyst ( J:78422 )
• at E14.5
kidney cyst ( J:78422 )
• at E14.5, all surviving embryos exhibit diffuse hemorrhages

homeostasis/metabolism
edema ( J:78422 )
• at E14.5, all surviving embryos are edematous

embryo
decreased embryo size ( J:78422 )
• 3 small and pale mice are born but die immediately

integument
pallor ( J:78422 )
• 3 small and pale mice are born but die immediately




Genotype
MGI:3795607
ht2
Allelic
Composition		 Pkd1tm1Som/Pkd1+
Genetic
Background		 involves: 129/Sv * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1tm1Som mutation (0 available); any Pkd1 mutation (153 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
renal/urinary system
kidney cyst ( J:78422 )
• one gross kidney cyst is observed at 12 months of age

growth/size/body
kidney cyst ( J:78422 )
• one gross kidney cyst is observed at 12 months of age




Genotype
MGI:5442311
cn3
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 (153 available)
Prkcshtm1Som mutation (0 available); any Prkcsh mutation (27 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
renal/urinary system
increased kidney apoptosis ( J:188763 )
• increased apoptosis in cysts compared to in cysts from Prkcshtm1Som/Prkcshtm1Som Tg(Cdh16-cre)91Igr mice
increased kidney cell proliferation ( J:188763 )
• increased cell proliferation in cysts compared to in cysts from Prkcshtm1Som/Prkcshtm1Som Tg(Cdh16-cre)91Igr mice
kidney cyst ( J:188763 )
• 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
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 Prkcshtm1Som/Prkcshtm1Som Tg(Cdh16-cre)91Igr mice
increased kidney cell proliferation ( J:188763 )
• increased cell proliferation in cysts compared to in cysts from Prkcshtm1Som/Prkcshtm1Som Tg(Cdh16-cre)91Igr mice

homeostasis/metabolism

growth/size/body
kidney cyst ( J:188763 )
• 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
increased kidney weight ( J:188763 )




Genotype
MGI:5442321
cn4
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 (153 available)
Sec63tm1Som mutation (0 available); any Sec63 mutation (40 available)
Tg(Cdh16-cre)91Igr mutation (1 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
renal/urinary system
increased kidney apoptosis ( J:188763 )
• increased apoptosis in cysts compared to in cysts from Sec63tm1Som/Sec63tm1Som Tg(Cdh16-cre)91Igr mice
increased kidney cell proliferation ( J:188763 )
• increased cell proliferation in cysts compared to in cysts from Sec63tm1Som/Sec63tm1Som Tg(Cdh16-cre)91Igr mice
kidney cyst ( J:188763 )
• 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
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 Sec63tm1Som/Sec63tm1Som Tg(Cdh16-cre)91Igr mice
increased kidney cell proliferation ( J:188763 )
• increased cell proliferation in cysts compared to in cysts from Sec63tm1Som/Sec63tm1Som Tg(Cdh16-cre)91Igr mice

homeostasis/metabolism

growth/size/body
kidney cyst ( J:188763 )
• 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
increased kidney weight ( J:188763 )




Genotype
MGI:5430908
cn5
Allelic
Composition		 Pkd1tm1Som/Pkd1tm2Som
Tg(Cdh16-cre/ERT2)24Igr/?
Genetic
Background		 involves: 129/Sv * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1tm1Som mutation (0 available); any Pkd1 mutation (153 available)
Pkd1tm2Som mutation (0 available); any Pkd1 mutation (153 available)
Tg(Cdh16-cre/ERT2)24Igr mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
abnormal mitotic spindle morphology ( J:185863 )
• loss of orientation of cell division to the lumen of the medullary collecting ducts of the kidney starts to develop after tubules begin to dilate
• no significant change in orientation of cell division to the lumen of the collecting ducts of the kidney at 3 days of age




Genotype
MGI:3795605
cx6
Allelic
Composition		 Pkd1tm1Som/Pkd1+
Pkd2tm2Som/Pkd2+
Genetic
Background		 involves: 129/Sv * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1tm1Som mutation (0 available); any Pkd1 mutation (153 available)
Pkd2tm2Som mutation (0 available); any Pkd2 mutation (84 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
liver/biliary system
liver cyst ( J:78422 )
• at 12 months of age, 43% of livers exhibit cysts
• mice exhibit more cysts than in wild-type mice or either heterozygote alone

renal/urinary system
kidney cyst ( J:78422 )
• at 12 months of age, 29% of kidneys exhibit gross kidney surface cysts with only 1 observed at 9 months of age
• mice exhibit more cysts than in wild-type mice or either heterozygote alone

growth/size/body
kidney cyst ( J:78422 )
• at 12 months of age, 29% of kidneys exhibit gross kidney surface cysts with only 1 observed at 9 months of age
• mice exhibit more cysts than in wild-type mice or either heterozygote alone
liver cyst ( J:78422 )
• at 12 months of age, 43% of livers exhibit cysts
• mice exhibit more cysts than in wild-type mice or either heterozygote alone




Genotype
MGI:5546346
cx7
Allelic
Composition		 Pkd1tm1Som/Pkd1+
Tg(Pkd1*)39Mtru/0
Genetic
Background		 involves: 129/Sv * C57BL/6J * CBA/J * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1tm1Som mutation (0 available); any Pkd1 mutation (153 available)
Tg(Pkd1*)39Mtru mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
renal/urinary system
polycystic kidney ( J:198147 )
• kidneys exhibit tubular and glomerular cysts in late adulthood similar to single Tg(Pkd1*)39Mtru mice
dilated renal tubule ( J:198147 )
• general tubular dilatations

growth/size/body
polycystic kidney ( J:198147 )
• kidneys exhibit tubular and glomerular cysts in late adulthood similar to single Tg(Pkd1*)39Mtru mice

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




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Send questions and comments to User Support. 		last database update
04/23/2024
MGI 6.23 		The Jackson Laboratory