| First Author | Dionne LA | Year | 2017 |
| Journal | MGI Direct Data Submission | Mgi Jnum | J:237832 |
| Mgi Id | MGI:5817052 | Citation | Dionne LA, et al. (2017) The spontaneous buttercup 2 Jackson mutation. MGI Direct Data Submission |
| abstractText | A spontaneous recessive mutation causing a pale yellow coat color on an otherwise albino background arose in the FVB/NJ colony at The Jackson Laboratory. Similar to the original buttercup (Slc6a19<bucp>) mutation, the fur of homozygotes fluoresces under long range UV light. Auditory brainstem response analysis of three homozygotes at two months of age found only normal hearing. A cross between a homozygous male and a female heterozygous for the buttercup allele of Slc6a19 produced 12 pale yellow offspring out of 31 total progeny, indicating that this is a mutation in Slc6a19. Whole exome sequencing identified a G to A transition in Chromosome 13 position 73,821,691 bp, which is predicted to cause a Q444stop nonsense mutation in Slc6a19. This mutation has been named buttercup 2 Jackson. Mass spectrometry analysis on liver and plasma from two homozygous females and two heterozygous female controls at six weeks of age found no noteworthy differences in the concentration of glycine, alanine, serine, proline, valine, leucine/isoleucine, methionine, histidine, phenylalanine, tyrosine, asparagine/aspartic acid, glutamine/glutamic acid, citrulline, ornithine, or arginine, and aside from a small difference in plasma C5-DC the acylcarnitine levels were also comparable. Urine creatinine and glucose levels also were not found to be abnormal when comparing five homozygotes with two heterozygotes at slightly over three months of age. Thus, while mutations in SLC6A19 can cause Hartnup disorder, this mutation does not appear to cause in mice the aminoaciduria typical of this disease. |
