This spontaneous point mutation causes homozygotes to have a pale yellow coat color on an otherwise albino white background, and sweet smelling urine indicative of a metabolic disorder. This mutant is valuable for characterizing the impact of a truncation mutation in Slc6a19 in neutral alpha-amino acid transport and Hartnup disorder.Read More +
Mice homozygous for the recessive buttercup 2 Jackson mutation have a pale yellow coat color despite being homozygous for the albino Tyrc mutation. Additionally, the fur fluoresces under long-range ultraviolet light. 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 to those of controls. 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.
The buttercup 2 Jackson mutation arose spontaneously in the inbred strain FVB/NJ at The Jackson Laboratory and has been kept coisogenic on this background through sibling intercrossing. Sperm was cryopreserved from homozygous males.
|Allele Name||buttercup 2 Jackson|
|Allele Type||Spontaneous (Not Specified)|
|Gene Symbol and Name||Slc6a19, solute carrier family 6 (neurotransmitter transporter), member 19|
|Strain of Origin||FVB/NJ|
|Molecular Note||This spontaneous G-to-A transition at chromosome 13 positive strand position 73,684,243 bp (GRCm38) causes a (p.Q444*) nonsense mutation from a glutamine codon.|