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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Pkd2tm3Som
targeted mutation 3, Stefan Somlo
MGI:5430797
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
 		Pkd2tm3Som/Pkd2tm3Som
Tg(Pkhd1-cre)1Igr/0 		involves: 129S4/SvJae * C57BL/6 MGI:6317329
cn2
 		Mirc1tm1.1Tyj/Mirc1tm1.1Tyj
Pkd2tm3Som/Pkd2tm3Som
Tg(Pkhd1-cre)1Igr/0 		involves: 129S4/SvJae * C57BL/6 MGI:6317330
cn3
 		Pkd2tm3Som/Pkd2tm3Som
Tg(Pkd1)248Som/0
Tg(Pkhd1-cre)1Igr/0 		involves: C57BL/6J * SJL/J MGI:5442314
cn4
 		Pkd2tm3Som/Pkd2tm3Som
Tg(Pkhd1-cre)1Igr/? 		Not Specified MGI:5430910


Genotype
MGI:6317329
cn1
Allelic
Composition		 Pkd2tm3Som/Pkd2tm3Som
Tg(Pkhd1-cre)1Igr/0
Genetic
Background		 involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd2tm3Som mutation (0 available); any Pkd2 mutation (85 available)
Tg(Pkhd1-cre)1Igr mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:244067 )
• median survival of approximately 70 days

renal/urinary system
increased kidney cell proliferation ( J:244067 )
• increase in cyst epithelial cell proliferation
• mice supplemented with the PPAR-alpha agonist fenofibrate or treated with an anti-miR-17 oligonucleotide show reduced cyst epithelial cell proliferation
polycystic kidney ( J:244067 )
• mice exhibit less aggressive polycystic kidney disease than Pkd1 mutants
• mice supplemented with the PPAR-alpha agonist fenofibrate show reduced cyst index
enlarged kidney ( J:244067 )
• kidney is enlarged due to cysts
• mice supplemented with the PPAR-alpha agonist fenofibrate or treated with an anti-miR-17 oligonucleotide show reduced kidney weight-to-body weight ratios

cellular
increased kidney cell proliferation ( J:244067 )
• increase in cyst epithelial cell proliferation
• mice supplemented with the PPAR-alpha agonist fenofibrate or treated with an anti-miR-17 oligonucleotide show reduced cyst epithelial cell proliferation

homeostasis/metabolism
increased blood urea nitrogen level ( J:244067 )
• BUN levels are increased
• mice treated with an anti-miR-17 oligonucleotide show reduced BUN levels

growth/size/body
polycystic kidney ( J:244067 )
• mice exhibit less aggressive polycystic kidney disease than Pkd1 mutants
• mice supplemented with the PPAR-alpha agonist fenofibrate show reduced cyst index
enlarged kidney ( J:244067 )
• kidney is enlarged due to cysts
• mice supplemented with the PPAR-alpha agonist fenofibrate or treated with an anti-miR-17 oligonucleotide show reduced kidney weight-to-body weight ratios

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
polycystic kidney disease 2 DOID:0110859 OMIM:613095
 J:244067




Genotype
MGI:6317330
cn2
Allelic
Composition		 Mirc1tm1.1Tyj/Mirc1tm1.1Tyj
Pkd2tm3Som/Pkd2tm3Som
Tg(Pkhd1-cre)1Igr/0
Genetic
Background		 involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mirc1tm1.1Tyj mutation (1 available); any Mirc1 mutation (6 available)
Pkd2tm3Som mutation (0 available); any Pkd2 mutation (85 available)
Tg(Pkhd1-cre)1Igr mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:244067 )
• mice have a median survival of 127 days which is 149% increase in median survival compared to single conditional Pkd2 mutants

renal/urinary system
decreased kidney cell proliferation ( J:244067 )
• mice show a 58.9% decrease in the number of proliferating cyst epithelial cells compared to single conditional Pkd2 mutants
kidney cyst ( J:244067 )
• mice show a 15.8% reduction in cyst index compared to single conditional Pkd2 mutants

cellular
decreased kidney cell proliferation ( J:244067 )
• mice show a 58.9% decrease in the number of proliferating cyst epithelial cells compared to single conditional Pkd2 mutants

homeostasis/metabolism
decreased circulating creatinine level ( J:244067 )
• mice show a 31.8% improvement in serum creatinine levels compared to single conditional Pkd2 mutants

growth/size/body
kidney cyst ( J:244067 )
• mice show a 15.8% reduction in cyst index compared to single conditional Pkd2 mutants




Genotype
MGI:5442314
cn3
Allelic
Composition		 Pkd2tm3Som/Pkd2tm3Som
Tg(Pkd1)248Som/0
Tg(Pkhd1-cre)1Igr/0
Genetic
Background		 involves: C57BL/6J * SJL/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd2tm3Som mutation (0 available); any Pkd2 mutation (85 available)
Tg(Pkd1)248Som mutation (0 available)
Tg(Pkhd1-cre)1Igr mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
renal/urinary system

growth/size/body
kidney cyst ( J:188763 )




Genotype
MGI:5430910
cn4
Allelic
Composition		 Pkd2tm3Som/Pkd2tm3Som
Tg(Pkhd1-cre)1Igr/?
Genetic
Background		 Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd2tm3Som mutation (0 available); any Pkd2 mutation (85 available)
Tg(Pkhd1-cre)1Igr 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

renal/urinary system
dilated kidney collecting duct ( J:185863 )
• cystic dilation of collecting duct segments beginning at 8-10 days of age




Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory