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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Pkd1tm2.2Bol
targeted mutation 2.2, Alessandra Boletta
MGI:4366013
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Pkd1tm2.2Bol/Pkd1tm2.2Bol involves: 129S2/SvPas * C57BL/6 * C57BL/6NTac MGI:4366024
ht2
 		Pkd1tm2.1Bol/Pkd1tm2.2Bol involves: 129S2/SvPas * C57BL/6 * C57BL/6NTac MGI:4366021
ht3
 		Pkd1tm2.2Bol/Pkd1tm3.1Bol involves: 129S2/SvPas * C57BL/6 * C57BL/6NTac MGI:4366025
cn4
 		Pkd1tm2.2Bol/Pkd1tm3.1Bol
Tg(Nes-cre)1Kln/0 		involves: 129S2/SvPas * C57BL/6 * C57BL/6NTac * SJL MGI:4366028


Genotype
MGI:4366024
hm1
Allelic
Composition		 Pkd1tm2.2Bol/Pkd1tm2.2Bol
Genetic
Background		 involves: 129S2/SvPas * C57BL/6 * C57BL/6NTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1tm2.2Bol mutation (0 available); any Pkd1 mutation (153 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Pkd1tm2.2Bol/Pkd1tm2.2Bol embryos show mild hydrocephalus at E16.5

mortality/aging
lethality throughout fetal growth and development, complete penetrance ( J:153606 )
• 90% of mice survive to E15.5, 60% of mice survive to E16.5, and none survive to E17.5

nervous system
abnormal brain vasculature morphology ( J:153606 )
• vessels are dilated at E16.5
hydrocephaly ( J:153606 )
• mild at E16.5
dilated lateral ventricle ( J:153606 )
• mild without aqueduct stenosis
dilated third ventricle ( J:153606 )
• without aqueduct stenosis

renal/urinary system
kidney cyst ( J:153606 )
• at E15.5, mice develop tubular and glomerular cysts unlike wild-type mice

homeostasis/metabolism
edema ( J:153606 )
• beginning at E14.5 and worsening at E15.5

cardiovascular system
abnormal brain vasculature morphology ( J:153606 )
• vessels are dilated at E16.5
hemorrhage ( J:153606 )
• beginning at E14.5 and worsening at E15.5

growth/size/body
kidney cyst ( J:153606 )
• at E15.5, mice develop tubular and glomerular cysts unlike wild-type mice




Genotype
MGI:4366021
ht2
Allelic
Composition		 Pkd1tm2.1Bol/Pkd1tm2.2Bol
Genetic
Background		 involves: 129S2/SvPas * C57BL/6 * C57BL/6NTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1tm2.1Bol mutation (0 available); any Pkd1 mutation (153 available)
Pkd1tm2.2Bol mutation (0 available); any Pkd1 mutation (153 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
normal phenotype
no abnormal phenotype detected ( J:153606 )
• mice are viable and fertile and do not develop renal, hepatic, or pancreatic cysts by 18 months of age




Genotype
MGI:4366025
ht3
Allelic
Composition		 Pkd1tm2.2Bol/Pkd1tm3.1Bol
Genetic
Background		 involves: 129S2/SvPas * C57BL/6 * C57BL/6NTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1tm2.2Bol mutation (0 available); any Pkd1 mutation (153 available)
Pkd1tm3.1Bol mutation (0 available); any Pkd1 mutation (153 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
normal phenotype
no abnormal phenotype detected ( J:153606 )
• mice are viable and fertile and do not develop renal, hepatic, or pancreatic cysts by 18 months of age




Genotype
MGI:4366028
cn4
Allelic
Composition		 Pkd1tm2.2Bol/Pkd1tm3.1Bol
Tg(Nes-cre)1Kln/0
Genetic
Background		 involves: 129S2/SvPas * C57BL/6 * C57BL/6NTac * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1tm2.2Bol mutation (0 available); any Pkd1 mutation (153 available)
Pkd1tm3.1Bol mutation (0 available); any Pkd1 mutation (153 available)
Tg(Nes-cre)1Kln mutation (4 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Hydrocephalus in Pkd1tm2.2Bol/Pkd1tm3.1Bol Tg(Nes-cre)1Kln/0 mice

mortality/aging

nervous system
hydrocephaly ( J:153606 )
• at P8
abnormal brain ventricle morphology ( J:153606 )
• at P10, mice exhibit a triventricular phenotype unlike wild-type mice

renal/urinary system

growth/size/body
kidney cyst ( J:153606 )




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