| First Author | Reinholdt LG | Year | 2017 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:237831 |
| Mgi Id | MGI:5817051 | Citation | Reinholdt LG, et al. (2017) Buttercup, a spontaneous point mutation in mouse Slc6a19. MGI Direct Data Submission |
| abstractText | A recessive mutation causing a pale yellow coat color on an otherwise albino background arose spontaneously in the A/J inbred strain and was named buttercup (bucp). When viewed under long-range ultraviolet light the fur fluoresces. The pale yellow color of the coat is similar to that found in chick yellow mutants (Tdo2<chky>). In addition to the coat color phenotype, this mutation causes the urine to have a sweet odor and after several days in a clean box the urine turns pine shavings yellow, indicative of a metabolic mutation. This mutation was found to be recessive and mapped to Chromosome 13 between D13Mit199 and D13Mit8. Whole genome sequencing identified a G to T transversion at position 73,682,158 bp of Chromosome 13 (GRCm38/mm10), which is in the splice acceptor site immediately adjacent to exon 11 of Slc6a19. Recessive mutations in human SLC6A19 cause Hartnup disorder, a disorder of neutral alpha-amino acid transport in the intestines and kidney. In addition to the aminoaciduria, symptoms of this disease can include a light-sensitive rash, cerebellar ataxia, and other neurological and psychological phenotypes. Further characterization is needed to determine whether the buttercup mutation provides a model for Hartnup disorder. |
