Allele Symbol Allele Name Allele ID |
Slc6a19tm1Dgen targeted mutation 1, Deltagen MGI:5288516 |
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Summary |
3 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 |
• when fed a low protein diet
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• by 12 weeks of age
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• when fed a low or high protein diet
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N |
• mice exhibit normal intestine morphology
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• mice exhibit decreased sodium-dependent leucine uptake in sections of inverted intestine compared to in wild-type mice
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• alanine, asparagine, glycine, glutamine, isoleucine, methionine, phenylalanine, serine, threonine, and tyrosine are increased in the urine compared to in wild-type mice
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• upon refeeding after fasting
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• mice exhibit a blunted plasma insulin response to feeding-fasting cycle compared with wild-type mice
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• alanine, asparagine, glycine, glutamine, isoleucine, methionine, phenylalanine, serine, threonine, and tyrosine are increased in the urine compared to in wild-type mice
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• renal brush-border membrane vesicles (BBMVs) fail to exhibit sodium-dependent leucine uptake compared with wild-type cells
• renal BBMVs exhibit reduced sodium dependent glutamine, histidine, tryptophan, glucose, and carosine compared with wild-type cells
• renal BBMVs exhibit increased sodium-independent glutamine uptake compared with wild-type cells
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• when fed a high protein diet
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Hartnup disease | DOID:1060 |
OMIM:234500 |
J:175382 |
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• mice exhibit decreased sodium-dependent leucine uptake in sections of inverted intestine compared to in wild-type mice
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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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