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 mild, distal mutation in Slc6a19 in neutral alpha-amino acid transport and Hartnup disorder.Read More +
Mice homozygous for the recessive buttercup mutation have a pale yellow coat color despite being homozygous for the albino Tyrc mutation. The fur fluoresces under long-range ultraviolet light and the urine has a sweet odor and turns pine shavings yellow after several days, consistent with a metabolic defect. This mutant was not tested for aminoaciduria, but defects in mouse in human SLC6A19 have been found to cause Hartnup disorder, which is a defect in neutral alpha-amino acid transport in the intestines and kidney.
The buttercup mutation arose spontaneously on the A/J background and was maintained on that background for many years. A homozygote was then outcrossed once to FVB/NJ and the F1 offspring were intercrossed to produce homozygous males for sperm cryopreservation.
|Allele Type||Spontaneous (Not Specified)|
|Gene Symbol and Name||Slc6a19, solute carrier family 6 (neurotransmitter transporter), member 19|
|Strain of Origin||A/J|
|Molecular Note||This spontaneous G-to-T transversion in chromosome 13 positive strand position 73,682,158 bp (GRCm38/mm10) in intron 10 eliminates exon 11 splice acceptor site CAG by changing it to CAT.|