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Phenotypes Associated with This Genotype
Genotype
MGI:3531115
Allelic
Composition
Pkd1tm1Jzh/Pkd1tm1Jzh
Genetic
Background
either: (involves: 129S4/SvJae * C57BL/6) or (involves: 129S4/SvJae * BALB/c)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pkd1tm1Jzh mutation (0 available); any Pkd1 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• after E18.5, most mutant embryos are dead, partly absorbed or misshapen (J:43193)
• few homozygotes survive to term but die, on average, 4 hours after birth (J:43193)
• after E18.5, most mutant embryos are dead, partly absorbed or misshapen (J:43193)
• few homozygotes survive to term but die, on average, 4 hours after birth (J:43193)
• only 1 out of 400 homozygotes survived the neonatal period and died at P8 with pale cystic kidneys and a cystic pancreas (J:43193)
• only 1 out of 400 homozygotes survived the neonatal period and died at P8 with pale cystic kidneys and a cystic pancreas (J:43193)

cardiovascular system
N
• homozygotes exhibit normal fetal hearts relative to wild-type mice (J:72627)
• homozygotes exhibit normal fetal hearts relative to wild-type mice (J:72627)

digestive/alimentary system
• homozygotes show early and massive dilatation of pancreatic ducts (J:43193)
• homozygotes show early and massive dilatation of pancreatic ducts (J:43193)

endocrine/exocrine glands
N
• homozygotes exhibit no cyst formation in testis, ovary or salivary glands (J:43193)
• homozygotes exhibit no cyst formation in testis, ovary or salivary glands (J:43193)
• homozygotes show early and massive dilatation of pancreatic ducts (J:43193)
• homozygotes show early and massive dilatation of pancreatic ducts (J:43193)
• homozygotes contain fewer islets of Langerhans than wild-type mice; in contrast, acini appear to develop normally (J:43193)
• homozygotes contain fewer islets of Langerhans than wild-type mice; in contrast, acini appear to develop normally (J:43193)
• homozygotes exhibit cysts in major pancreatic ducts as early as E13.5, before renal cysts develop (J:43193)
• newborn (and P8) pancreases contain massive yellow fluid-filled cysts that enlarge with age (J:43193)
• homozygotes exhibit cysts in major pancreatic ducts as early as E13.5, before renal cysts develop (J:43193)
• newborn (and P8) pancreases contain massive yellow fluid-filled cysts that enlarge with age (J:43193)

growth/size/body
• at P8, the sole mutant survivor is significantly smaller relative to wild-type (J:43193)
• at P8, the sole mutant survivor is significantly smaller relative to wild-type (J:43193)
• newborn homozygotess exhibit dwarfism relative to newborn wild-type mice (J:72627)
• newborn homozygotess exhibit dwarfism relative to newborn wild-type mice (J:72627)
• homozygotes that die perinatally display distended abdomens (J:43193)
• homozygotes that die perinatally display distended abdomens (J:43193)

hematopoietic system
N
• homozygotes display no changes in hemoglobin levels or erythrocyte morphology relative to wild-type (J:72627)
• homozygotes display no changes in hemoglobin levels or erythrocyte morphology relative to wild-type (J:72627)

homeostasis/metabolism
• exhibit mild hydrops fetalis at late stages of fetal development (J:72627)
• exhibit mild hydrops fetalis at late stages of fetal development (J:72627)
• histologically, mutant fetuses exhibit a mild subcutaneous edema (J:72627)
• histologically, mutant fetuses exhibit a mild subcutaneous edema (J:72627)
• exhibit mild polyhydramnios at late stages of fetal development (J:72627)
• exhibit mild polyhydramnios at late stages of fetal development (J:72627)

liver/biliary system
N
• unlike patients with ADPKD, homozygotes display no liver cyst formation (J:43193)
• unlike patients with ADPKD, homozygotes display no liver cyst formation (J:43193)

renal/urinary system
N
• in mutants, the initial stages of lumen formation and tubule differentiation proceed normally as late as E15.5 (J:43193)
• in mutants, the initial stages of lumen formation and tubule differentiation proceed normally as late as E15.5 (J:43193)
• in culture, kidney epithelial cells isolated from E15.5 (pre-cystic) mutant mice form primary cilia but fail to increase Ca2+ influx in response to physiological fluid flow at low levels of fluid shear stress (0.75 dyne cm-2) (J:81443)
• no Ca2+ signaling is detected in wild-type or mutant cells at higher levels of fluid shear stress (15 dyne cm-2) (J:81443)
• both wild-type and mutant cells respond to thrombin by increasing cytosolic Ca2+ concentrations, indicating that mutant cells retain the ability to conduct Ca2+ but lose the ability to sense fluid flow (J:81443)
• the Ca2+ response to thrombin is enhanced in mutant cells relative to wild-type cells, either in the presence of extracellular Ca2+ (J:81443)
• in culture, kidney epithelial cells isolated from E15.5 (pre-cystic) mutant mice form primary cilia but fail to increase Ca2+ influx in response to physiological fluid flow at low levels of fluid shear stress (0.75 dyne cm-2) (J:81443)
• no Ca2+ signaling is detected in wild-type or mutant cells at higher levels of fluid shear stress (15 dyne cm-2) (J:81443)
• both wild-type and mutant cells respond to thrombin by increasing cytosolic Ca2+ concentrations, indicating that mutant cells retain the ability to conduct Ca2+ but lose the ability to sense fluid flow (J:81443)
• the Ca2+ response to thrombin is enhanced in mutant cells relative to wild-type cells, either in the presence of extracellular Ca2+ (J:81443)
• by P8, renal parencyma in the sole survivor is almost completely replaced by cysts; cuboidal tubular epithelia are replaced by flattened cyst-lining epithelia (J:81443)
• by P8, renal parencyma in the sole survivor is almost completely replaced by cysts; cuboidal tubular epithelia are replaced by flattened cyst-lining epithelia (J:81443)
• homozygotes that die perinatally exhibit massive kidney enlargement (J:43193)
• homozygotes that die perinatally exhibit massive kidney enlargement (J:43193)
• at E15.5, homozygotes display progressive multifocal microdilatation of tubules in proximal tubules of the outer medulla (J:43193)
• in newborn homozygotes, tubule dilatation is more extensive, affecting most of the kidney (J:43193)
• at E15.5, homozygotes display progressive multifocal microdilatation of tubules in proximal tubules of the outer medulla (J:43193)
• in newborn homozygotes, tubule dilatation is more extensive, affecting most of the kidney (J:43193)
• homozygotes that die perinatally first exhibit tubular and periglomerular cysts at E15.5; no histological abnormalities are noted until E14.5 (J:43193)
• the number and size of cysts increase with age (J:43193)
• homozygotes that die perinatally first exhibit tubular and periglomerular cysts at E15.5; no histological abnormalities are noted until E14.5 (J:43193)
• the number and size of cysts increase with age (J:43193)
• after E15.5, progressive tubule dilatation and cyst formation is noted in mutant cortex (J:43193)
• in newborn homozygotes, epithelial cysts occupy most of the cortex (J:43193)
• after E15.5, progressive tubule dilatation and cyst formation is noted in mutant cortex (J:43193)
• in newborn homozygotes, epithelial cysts occupy most of the cortex (J:43193)
• at E15.5, tubular and periglomerular cysts are scattered throughout the outer medulla; nephrogenesis at the rim of the kidney remains unaffected (J:43193)
• cyst formation is subsequently noted in collecting tubules of the inner medulla (J:43193)
• in newborn homozygotes, epithelial cysts occupy the entire medulla (J:43193)
• at E15.5, tubular and periglomerular cysts are scattered throughout the outer medulla; nephrogenesis at the rim of the kidney remains unaffected (J:43193)
• cyst formation is subsequently noted in collecting tubules of the inner medulla (J:43193)
• in newborn homozygotes, epithelial cysts occupy the entire medulla (J:43193)

respiratory system
• a number of newborn homozygotes exhibit thyroid cartilage malformation (J:72627)
• a number of newborn homozygotes exhibit thyroid cartilage malformation (J:72627)
• homozygotes that die perinatally have small lungs relative to wild-type mice (J:43193)
• homozygotes that die perinatally have small lungs relative to wild-type mice (J:43193)
• homozygotes that die perinatally have hypoplastic lungs (J:43193)
• homozygotes that die perinatally have hypoplastic lungs (J:43193)
• homozygotes that survive to term but die perinatally exhibit difficulty in breathing and fail to turn pink (J:43193)
• homozygotes that survive to term but die perinatally exhibit difficulty in breathing and fail to turn pink (J:43193)

skeleton
• 8 out of 11 (73%) homozygotes develop mild spina bifida occulta in the lumbar region at late embryonic or newborn stages (J:72627)
• 8 out of 11 (73%) homozygotes develop mild spina bifida occulta in the lumbar region at late embryonic or newborn stages (J:72627)
• a number of newborn homozygotes exhibit thyroid cartilage malformation (J:72627)
• a number of newborn homozygotes exhibit thyroid cartilage malformation (J:72627)
• newborn homozygotes display osteochondrodysplasia (J:72627)
• newborn homozygotes display osteochondrodysplasia (J:72627)
• newborn homozygotes display a delay in bone mineralization of vertebrae, long bones and skull relative to wild-type mice (J:72627)
• newborn homozygotes display a delay in bone mineralization of vertebrae, long bones and skull relative to wild-type mice (J:72627)

nervous system
• 8 out of 11 (73%) homozygotes develop mild spina bifida occulta in the lumbar region at late embryonic or newborn stages (J:72627)
• 8 out of 11 (73%) homozygotes develop mild spina bifida occulta in the lumbar region at late embryonic or newborn stages (J:72627)

embryogenesis
• 8 out of 11 (73%) homozygotes develop mild spina bifida occulta in the lumbar region at late embryonic or newborn stages (J:72627)
• 8 out of 11 (73%) homozygotes develop mild spina bifida occulta in the lumbar region at late embryonic or newborn stages (J:72627)

integument
• histologically, mutant fetuses exhibit a mild subcutaneous edema (J:72627)
• histologically, mutant fetuses exhibit a mild subcutaneous edema (J:72627)

cellular
• in culture, kidney epithelial cells isolated from E15.5 (pre-cystic) mutant mice form primary cilia but fail to increase Ca2+ influx in response to physiological fluid flow at low levels of fluid shear stress (0.75 dyne cm-2) (J:81443)
• no Ca2+ signaling is detected in wild-type or mutant cells at higher levels of fluid shear stress (15 dyne cm-2) (J:81443)
• both wild-type and mutant cells respond to thrombin by increasing cytosolic Ca2+ concentrations, indicating that mutant cells retain the ability to conduct Ca2+ but lose the ability to sense fluid flow (J:81443)
• the Ca2+ response to thrombin is enhanced in mutant cells relative to wild-type cells, either in the presence of extracellular Ca2+ (J:81443)
• in culture, kidney epithelial cells isolated from E15.5 (pre-cystic) mutant mice form primary cilia but fail to increase Ca2+ influx in response to physiological fluid flow at low levels of fluid shear stress (0.75 dyne cm-2) (J:81443)
• no Ca2+ signaling is detected in wild-type or mutant cells at higher levels of fluid shear stress (15 dyne cm-2) (J:81443)
• both wild-type and mutant cells respond to thrombin by increasing cytosolic Ca2+ concentrations, indicating that mutant cells retain the ability to conduct Ca2+ but lose the ability to sense fluid flow (J:81443)
• the Ca2+ response to thrombin is enhanced in mutant cells relative to wild-type cells, either in the presence of extracellular Ca2+ (J:81443)

Mouse Models of Human Disease
OMIM ID Ref(s)
Polycystic Kidney Disease 1; PKD1 173900 J:43193 , J:72627 , J:81443


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory