Analysis Tools|
Allele Symbol Allele Name Allele ID |
Pkd1tm1Ggg targeted mutation 1, Gregory G Germino MGI:3612339 |
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| Summary |
9 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• more total protein in the amniotic fluid than in controls
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• seen in 75% at E12.5 and in 100% by E14.5-15.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice rarely survive beyond E15.5
• however, tetraploid complementation with wild-type cells partially rescues fetal lethality
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• placental abnormalities begin at E11.5 and become more severe with time
• however, mice exhibit normal total placenta and labyrinth area
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• at E12.5, fetal arterioles and capillary networks within the placenta are disorganized with decreased vascular branches compared to in wild-type mice
• at 12.5, the maternal vascular channels within the placenta are dilated unlike in wild-type mice
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• at E11.5, the placenta is slightly less developed than in wild-type mice with polyhydramnios
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• at E11.5 and more severe at later time points
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• at E12.5, fetal arterioles and capillary networks within the placenta are disorganized with decreased vascular branches compared to in wild-type mice
• at 12.5, the maternal vascular channels within the placenta are dilated unlike in wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• all die in utero and viable embryos are reliably obtained only until E14.5-E15.5
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• renal cysts are first observed at E14.5-15.5
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• evident at E15.5
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• evident at E15.5
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• renal cysts are first observed at E14.5-15.5
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| polycystic kidney disease 1 | DOID:0110858 |
OMIM:173900 |
J:76062 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• stage not specified, although embryos are recovered at E14
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• seen at 14 dpc, examples include bleeding into the yolk sac cavity and cerebral hemorrhage
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice that are born alive die shortly after birth
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• fewer than expected mice survive to birth but more than in Pkd1tm1Ggg homozygotes
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• placental abnormalities observed in Pkd1tm1Ggg homozygotes are partially rescued
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• some mice exhibit fewer fetal vessels and more dilated vascular spaces in the placenta compared with wild-type mice
• on average, fetal vessel density in the placenta is decreased compared to in wild-type mice
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| N |
• edematous mice exhibit normal heart morphology
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• some mice exhibit fewer fetal vessels and more dilated vascular spaces in the placenta compared with wild-type mice
• on average, fetal vessel density in the placenta is decreased compared to in wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• despite Mendelian ratios at E18.5, fewer than expected live born mice are observed
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• mice exhibit dilation of maternal vasculature in the placenta unlike in wild-type mice
• fewer fetal vessels and investing pericytes are present in the placenta compared to in wild-type mice
• fewer branched placental vessels are observed compared to in wild-type mice
• however, placental layer size is normal
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| N |
• unlike in null mice, no edema is observed
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• mice exhibit dilation of maternal vasculature in the placenta unlike in wild-type mice
• fewer fetal vessels and investing pericytes are present in the placenta compared to in wild-type mice
• fewer branched placental vessels are observed compared to in wild-type mice
• however, placental layer size is normal
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• in a small fraction of mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Osteopenia in newborn Pkd1tm1Ggg/Pkd1tm2Ggg Tg(Col1a1-cre)1Bek/0 mice
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• newborns have short and less mineralized femurs
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• newborns have short and less mineralized femurs
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• osteopenia is seen in newborns
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• in newborns
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• in newborns
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• newborns show a delay in bone mineralization in calvarial and vertebral bone tissues
• bone phenotype is more severe than in Pkd1tm1Ggg/Pkd1tm1Ggg Tg(Col1a1-cre)1Bek/0 mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• all mice die by 9 months of age
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• survival rate of pups is 41.24%
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• mice exhibit macroscopic cysts derived from the distal tubules and collecting ducts and thick ascending loop of Henle by 3 months of age
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• by 3 months of age, all mice display enlarged kidneys with macroscopic cysts in a pattern that is similar to late-stage kidney disease in Pkhd1tm1.1Ggg homozygotes
• kidney volume is enlarged by more than 50% of that observed in the oldest, severely affected Pkhd1tm1.1Ggg homozygotes
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• kidney collecting ducts are dilated in a large proportion of mice at birth
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• hepatic abnormalities are more severe and develop at a younger age than in Pkhd1tm1.1Ggg homozygotes
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• liver cysts with fibrosis are often present on the first day after birth
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• pancreatic cysts are more severe and develop at a younger age than in Pkhd1tm1.1Ggg homozygotes
• pancreatic cysts with fibrosis are often present on the first day after birth
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• mice exhibit macroscopic cysts derived from the distal tubules and collecting ducts and thick ascending loop of Henle by 3 months of age
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• liver cysts with fibrosis are often present on the first day after birth
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• growth retardation is more severe and develops at a younger age than in Pkhd1tm1.1Ggg homozygotes
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• by 3 months of age, all mice display enlarged kidneys with macroscopic cysts in a pattern that is similar to late-stage kidney disease in Pkhd1tm1.1Ggg homozygotes
• kidney volume is enlarged by more than 50% of that observed in the oldest, severely affected Pkhd1tm1.1Ggg homozygotes
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• pancreatic cysts are more severe and develop at a younger age than in Pkhd1tm1.1Ggg homozygotes
• pancreatic cysts with fibrosis are often present on the first day after birth
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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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last database update 11/12/2024 MGI 6.24 |
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