Analysis Tools|
Allele Symbol Allele Name Allele ID |
Otcspf-J sparse fur Jackson MGI:1856372 |
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| Summary |
2 genotypes
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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 |
Small size and coat abnormalities in Otcspf-J/Y mice at 4 weeks of age disappear by 12 weeks of age
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• fur is grey at 4 weeks of age but by 12 weeks, coat color is similar to wild-type mice
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• compared with heterozygous females and normal littermates
(J:30778)
• coat is patchy at 4 weeks of age but by 12 weeks of age, coat density becomes similar to wild-type mice
(J:226209)
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• mice are smaller at 4 weeks of age but by 12 weeks of age, they are similar in size to wild-type mice
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• in the liver, aspartate, and glutamic acid are decreased, while ornithine is mildly decreased
• in the cerebrum, 12 of 20 amino acids measured are increased, including glycine and glutamine, indicating altered cerebral amino acid metabolism or transport
• following polyinosinic:polycytidylic acid (poly I:C) challenge to simulate viral infection, mice show a general decrease in many cerebral amino acids including valine, serine, phenylalanine, lysine, leucine, isoleucine, histidine, glutamine, glutamic acid, and arginine compared to wild-type mice
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• urea cycle intermediates ornithine, citrulline, and arginine are lower in the blood, indicating a proximal urea cycle defect
• mice maintained on a high protein diet for 2 weeks exhibit a 2.5-3x increase in plasma orotate levels, but not plasma ammonia levels
• mice on a regular chow diet show normal levels of plasma ammonia and plasma orotate
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• glutamate is mildly increased in the blood
• branched chain amino acids valine, leucine, and isoleucine are decreased in the blood
• following polyinosinic:polycytidylic acid (poly I:C) challenge to simulate viral infection, mice show a greater increase in glutamic acid levels in the blood over baseline
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• fur is grey at 4 weeks of age but by 12 weeks, coat color is similar to wild-type mice
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| ornithine carbamoyltransferase deficiency | DOID:9271 |
OMIM:311250 |
J:226209 | |
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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