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Allele Symbol Allele Name Allele ID |
Fh1tm1Pjp targeted mutation 1, Patrick J Pollard MGI:3710112 |
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| Summary |
3 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• urea cycle metabolism is rescued
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| N |
• kidney size and morphology are rescued
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• urea cycle metabolism is rescued
|
| N |
• kidney size and morphology are rescued
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• all animals exhibit macroscopic renal cysts at post-mortem;
(J:120969)
• some cells lining the cysts show poor intercellular cohesion and mild nuclear variation
(J:120969)
• cysts are derived from ascending limb of the Loop of Henle and from collecting ducts
(J:120969)
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• at cortico-medullary junction, kidneys display extensive cytic changes; these irregular cysts are lined with cuboidal epithelium
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• mice accumulate fumarate, argininosuccinate and citrulline in the kidneys whereas aspartate is depleted
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• cysts occasionally show lack of cytochrome c oxidase activity
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• all animals exhibit macroscopic renal cysts at post-mortem;
(J:120969)
• some cells lining the cysts show poor intercellular cohesion and mild nuclear variation
(J:120969)
• cysts are derived from ascending limb of the Loop of Henle and from collecting ducts
(J:120969)
|
|
• at cortico-medullary junction, kidneys display extensive cytic changes; these irregular cysts are lined with cuboidal epithelium
|
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• mice accumulate fumarate, argininosuccinate and citrulline in the kidneys whereas aspartate is depleted
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• occasionally sclerotic glomeruli are seen in tubules
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• some tubules are lined by vacuolated epithelium containing proteinaceous debris, but most have small amounts of eosinophilic secretion
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• mild hydronephrosis is seen in mice >14 months old
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• some mice develop polyuric renal failure at 8 months of age
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• in mouse embryonic fibroblasts
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• mouse embryonic fibroblasts exhibit multiple defects in the Krebs cycle and utilizes the urea cycle but not reductive carboxylation compared with wild-type cells
• mouse embryonic fibroblasts exhibit increased sensitivity to arginine deprivation with reduced colony growth and survival compared with wild-type cells
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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 04/23/2024 MGI 6.23 |
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