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Phenotypes Associated with This Genotype
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 (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• several embryos on the BALB/c background survive to term but die immediately after birth
• 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


renal/urinary system
• 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

• systemic edema of the whole embryo starting at E13.5
• massive subcutaneous edema
• seen as early as E12.5

nervous system
• develops at late embryonic or newborn stages

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

endocrine/exocrine glands
• pancreatic cysts develop at E13.5, however the cystic dilation of pancreatic ducts progresses more rapidly than in homozygous Pkd1tm1Jzh mice

respiratory system
• malformed thyroid cartilage

• develops at late embryonic or newborn stages

• massive subcutaneous edema

Mouse Models of Human Disease
OMIM ID Ref(s)
Polycystic Kidney Disease 1; PKD1 173900 J:72627

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.01
The Jackson Laboratory