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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Pkd1tm2Jzh
targeted mutation 2, Jing Zhou
MGI:2182840
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Pkd1tm2Jzh/Pkd1tm2Jzh either: (involves: 129S4/SvJae * BALB/c) or (involves: 129S4/SvJae * C57BL/6) MGI:3617489
hm2
 		Pkd1tm2Jzh/Pkd1tm2Jzh involves: 129S4/SvJae * C57BL/6 MGI:3811281
ht3
 		Pkd1tm2Jzh/Pkd1+ either: (involves: 129S4/SvJae * BALB/c) or (involves: 129S4/SvJae * C57BL/6) MGI:3617490


Genotype
MGI:3617489
hm1
Allelic
Composition		 Pkd1tm2Jzh/Pkd1tm2Jzh
Genetic
Background		 either: (involves: 129S4/SvJae * BALB/c) or (involves: 129S4/SvJae * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1tm2Jzh mutation (0 available); any Pkd1 mutation (154 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
perinatal lethality, complete penetrance ( J:72627 )
• several embryos on the BALB/c background survive to term but die immediately after birth
lethality throughout fetal growth and development, incomplete penetrance ( J:72627 )
• die as early as E13.5, which is 2 days earlier than homozygous Pkd1tm1Jzh mice, with a peak around E14.5 and E16.5
• Background Sensitivity: all C57BL/6 background embryos succumb by E17.5, while several BALB/c background embryos survive to term but die immediately after birth

growth/size/body
pancreas cyst ( J:72627 )
• pancreatic cysts develop at E13.5, however the cystic dilation of pancreatic ducts progresses more rapidly than in homozygous Pkd1tm1Jzh mice
polycystic kidney ( J:72627 )
• cyst formation becomes evident at E15.5
• have larger and more renal cysts than homozygous Pkd1tm1Jzh mice
• Background Sensitivity: progression of polycystic kidneys is milder on the BALB/c background than on the C57BL/6 background, such that the lesions seen at the newborn stage in the BALB/c background are similar to those seen at E17.5 in the C57BL/6 background
disproportionate dwarf ( J:72627 )

renal/urinary system
polycystic kidney ( J:72627 )
• cyst formation becomes evident at E15.5
• have larger and more renal cysts than homozygous Pkd1tm1Jzh mice
• Background Sensitivity: progression of polycystic kidneys is milder on the BALB/c background than on the C57BL/6 background, such that the lesions seen at the newborn stage in the BALB/c background are similar to those seen at E17.5 in the C57BL/6 background

homeostasis/metabolism
hydrops fetalis ( J:72627 )
• systemic edema of the whole embryo starting at E13.5
skin edema ( J:72627 )
• massive subcutaneous edema
polyhydramnios ( J:72627 )
• seen as early as E12.5

nervous system
spina bifida occulta ( J:72627 )
• develops at late embryonic or newborn stages

skeleton
abnormal thyroid cartilage morphology ( J:72627 )
• malformed thyroid cartilage
decreased length of long bones ( J:72627 )
• long bones are shorter and about 1/3 thinner than those of wild-type
abnormal bone marrow cavity morphology ( J:72627 )
• E17.5 bone marrow cavity is formed but is shortened
abnormal skeleton development ( J:72627 )
• skeletal development is retarded at the newborn stage
spina bifida occulta ( J:72627 )
• develops at late embryonic or newborn stages
decreased width of hypertrophic chondrocyte zone ( J:72627 )
• hypertrophic chondrocyte zone is reduced in length at E14.5
abnormal bone mineralization ( J:72627 )
• delay in bone mineralization of vertebrae, long bones, and skull, although ossification centers remain

endocrine/exocrine glands
pancreas cyst ( J:72627 )
• pancreatic cysts develop at E13.5, however the cystic dilation of pancreatic ducts progresses more rapidly than in homozygous Pkd1tm1Jzh mice

respiratory system
abnormal thyroid cartilage morphology ( J:72627 )
• malformed thyroid cartilage

embryo
spina bifida occulta ( J:72627 )
• develops at late embryonic or newborn stages

integument
skin edema ( J:72627 )
• massive subcutaneous edema

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
polycystic kidney disease 1 DOID:0110858 OMIM:173900
 J:72627




Genotype
MGI:3811281
hm2
Allelic
Composition		 Pkd1tm2Jzh/Pkd1tm2Jzh
Genetic
Background		 involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1tm2Jzh mutation (0 available); any Pkd1 mutation (154 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
neonatal lethality, complete penetrance ( J:140012 )
• about 10% of embryos survive until birth
lethality throughout fetal growth and development, incomplete penetrance ( J:140012 )
• embryos die as early as E13.5 with a peak between E14.5 and E16.5
• about 10% of embryos survive until birth

homeostasis/metabolism
edema ( J:140012 )
• systemic edema is noted in mice that have survived until birth
polyhydramnios ( J:140012 )
• is noted in mice that have survived until birth

renal/urinary system
polycystic kidney ( J:140012 )
• kidney cysts are first detectable in embryos at E15.5
• new born mice have polycystic kidneys with large cysts visibly disrupting the kidney architecture

growth/size/body
polycystic kidney ( J:140012 )
• kidney cysts are first detectable in embryos at E15.5
• new born mice have polycystic kidneys with large cysts visibly disrupting the kidney architecture

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
polycystic kidney disease 1 DOID:0110858 OMIM:173900
 J:140012




Genotype
MGI:3617490
ht3
Allelic
Composition		 Pkd1tm2Jzh/Pkd1+
Genetic
Background		 either: (involves: 129S4/SvJae * BALB/c) or (involves: 129S4/SvJae * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1tm2Jzh mutation (0 available); any Pkd1 mutation (154 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
renal/urinary system
kidney cyst ( J:72627 )
• microscopic kidney cysts are seen as early as 2.5 months of age, much earlier than in heterozygous Pkd1tm1Jzh mice
• 70% or 2.5-14.5 month old mice have 2-30 cysts

liver/biliary system
liver cyst ( J:72627 )
• 48% develop visible liver cysts that are first observed at 11 months of age and all have cysts at later stages (18-24 months)

endocrine/exocrine glands
pancreas cyst ( J:72627 )
• 1 of 21 mice develop a pancreatic cyst at 14.5 months of age

growth/size/body
pancreas cyst ( J:72627 )
• 1 of 21 mice develop a pancreatic cyst at 14.5 months of age
kidney cyst ( J:72627 )
• microscopic kidney cysts are seen as early as 2.5 months of age, much earlier than in heterozygous Pkd1tm1Jzh mice
• 70% or 2.5-14.5 month old mice have 2-30 cysts
liver cyst ( J:72627 )
• 48% develop visible liver cysts that are first observed at 11 months of age and all have cysts at later stages (18-24 months)

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
polycystic kidney disease 1 DOID:0110858 OMIM:173900
 J:72627




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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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11/12/2024
MGI 6.24 		The Jackson Laboratory