Analysis Tools|
Allele Symbol Allele Name Allele ID |
Aldh7a1tm1d(EUCOMM)Hmgu targeted mutation 1d, Helmholtz Zentrum Muenchen GmbH MGI:6491215 |
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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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• mice fed a high lysine (4.7%) and low (1.6 ppm) pyridoxine diet develop seizures as early as 31.9 hours post-diet administration
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• mice fed a high lysine (4.7%) and low (1.6 ppm) pyridoxine diet develop seizures as early as 31.9 hours post-diet administration
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• lower than the expected frequency of mice is seen at weaning
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• serine, proline, alanine, citrulline, leucine, alanine, tyrosine, phenylalanine, ornithine, tryptophan and histidine levels are elevated in the liver of adult mice
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• glycine levels are lower in the brain
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• leucine levels are elevated in the liver of adult mice
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• lysine levels are lower in the brain
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• ornithine levels are elevated in the brain and the liver
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• phenylalanine levels are elevated in the liver of adult mice
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• proline levels are elevated in the liver of adult mice
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• serine levels are elevated in the liver of adult mice
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• norepinephrine levels and its metabolite, normetanephrine, are increased in the plasma
• however, no differences in the levels of the neurotransmitters gamma-aminobutyric acid (GABA) and glutamic acid are seen
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• mice consuming a high lysine/low pyridoxine diet exhibit lower levels of phosphorylated form of pyridoxal (PLP), a vitamin B6 vitamer, in the brain and the liver
• mice fed the high lysine/pyridoxine diet treated with pyridoxine exhibit restoration of PLP levels in the brain and the liver to almost normal levels
• however, mice fed a normal diet show no difference in the concentration of vitamin B6 vitamers in the plasma, brain or liver
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• mice accumulate high concentrations of upstream lysine metabolites in the brain and liver, indicating dysregulation of lysine metabolites
• upstream lysine catabolite products delta1-piperideine-6-carboxylic acid (P6C), pipecolic acid (PIP), saccharopine (SAC), and alpha-aminoadipic semialdehyde (alpha-AAA) are increased in the brain tissue at P0
• -lysine catabolite PIP is elevated in liver tissue at P0
• lysine catabolic products P6C, alpha-AASA, and PIP accumulate in higher concentrations in the brain and liver tissues of adults
• P6C accumulates to higher levels in brain tissue of adults than in neonates
• PIP accumulates to higher levels in brain tissue of neonates than in adults
• P6C levels are nominally higher in liver tissue than in brain tissue of adults
• PIP levels are higher in brain tissue than in liver tissue in both neonates and adults
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| N |
• mice show normal locomotor activity in the open field, no anxiety-like behavior in the open field, elevated plus maze and novel object recognition, no depressive-like behavior in the forced swim test, normal spatial memory and learning in the Morris water maze, and normal coordination and motor learning on the accelerating rotarod
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• mice fed a high lysine (4.7%) and low (1.6 ppm) pyridoxine diet develop seizures as early as 23.5 hours post-diet administration and die or are euthanized to due severity
mice treated with pyridoxine and fed the high lysine and low pyridoxine diet do not exhibit seizures, indicating that mice develop pyridoxine-dependent seizures due to the depletion of PLP
• however, mice fed a normal diet (low lysine/high pyridoxine) show no evidence of epileptic seizures on a normal diet
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• methionine sulfoxide levels are elevated in the brain, indicating oxidative stress
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• mice fed a high lysine (4.7%) and low (1.6 ppm) pyridoxine diet develop seizures as early as 23.5 hours post-diet administration and die or are euthanized to due severity
mice treated with pyridoxine and fed the high lysine and low pyridoxine diet do not exhibit seizures, indicating that mice develop pyridoxine-dependent seizures due to the depletion of PLP
• however, mice fed a normal diet (low lysine/high pyridoxine) show no evidence of epileptic seizures on a normal diet
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| pyridoxine-dependent epilepsy | DOID:0080768 | J:298561 | ||
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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