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Phenotypes Associated with This Genotype
Genotype
MGI:3622885
Allelic
Composition
Pkd1tm1Maa/Pkd1tm1Maa
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1tm1Maa mutation (0 available); any Pkd1 mutation (153 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Histological analysis of tissues from Pkd1tm1Maa/Pkd1tm1Maa embryos

mortality/aging
• no mutant embryos are recovered at E16.5 or later
• homozygotes die between E14.5 and E15.5 due to vascular leaks and massive hemorrhage

cardiovascular system
• at E13.5, homozygotes display vascular leaks and rupture of angiogenically-derived blood vessels (e.g. brain, skin, and limb buds vessels)
• in contrast, major axial vessels (e.g. aorta) formed by vasculogenesis appear unaffected
• at E12.5-E13.5, 35% of homozygotes exhibit punctate and localized hemorrhages in the head and toes
• by E15.5, homozygotes display extensive, fatal hemorrhages

homeostasis/metabolism
• by E15.5, homozygotes exhibit diffuse edema
• at E12.5, 35% of homozygotes display subcutaneous edema over the body surface

renal/urinary system
• at E14.5, homozygotes display multifocal microscopic dilations of the renal glomerular and tubular structures; however, initial nephrogenesis appears unaffected
• no cysts are observed in the liver at this stage

endocrine/exocrine glands
• at E14.5, homozygotes exhibit focal dilations of the pancreatic ducts

integument
• at E12.5, 35% of homozygotes display subcutaneous edema over the body surface

growth/size/body
• at E14.5, homozygotes exhibit focal dilations of the pancreatic ducts
• at E14.5, homozygotes display multifocal microscopic dilations of the renal glomerular and tubular structures; however, initial nephrogenesis appears unaffected
• no cysts are observed in the liver at this stage


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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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory