| Dataset | MPO Gene-Phenotype Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | any anomaly in the concentration of L-ascorbic acid (vitamin C), which is a common co-factor and has anti-oxidant activities in many species (Mammalian Phenotype Ontology, MP_0011229) |
| External Link | http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0011229 |
| Similar Terms | |
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5 gene mutations causing the abnormal vitamin c level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
| Symbol | Name |
|---|---|
| AKR1A1 | aldo-keto reductase family 1, member A1 (aldehyde reductase) |
| AKR1B1 | aldo-keto reductase family 1, member B1 (aldose reductase) |
| RGN | regucalcin |
| SLC23A1 | solute carrier family 23 (ascorbic acid transporter), member 1 |
| SLC23A2 | solute carrier family 23 (ascorbic acid transporter), member 2 |
