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 +Genetic Background | Generation |
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001800 FVB/NJ |
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Allele Type | Gene Symbol | Gene Name |
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Spontaneous (Not Specified) | Slc6a19 | solute carrier family 6 (neurotransmitter transporter), member 19 |
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 |
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Allele Type | Spontaneous (Not Specified) |
Allele Synonym(s) | |
Gene Symbol and Name | Slc6a19, solute carrier family 6 (neurotransmitter transporter), member 19 |
Gene Synonym(s) | |
Strain of Origin | FVB/NJ |
Chromosome | 13 |
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. |
When using the buttercup 2 Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #016199 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous for Slc6a19<bucp-2J> |
Frozen Mouse Embryo | FVB/NJ-Slc6a19<bucp-2J>/GrsrJ | $2595.00 |
Frozen Mouse Embryo | FVB/NJ-Slc6a19<bucp-2J>/GrsrJ | $2595.00 |
Frozen Mouse Embryo | FVB/NJ-Slc6a19<bucp-2J>/GrsrJ | $3373.50 |
Frozen Mouse Embryo | FVB/NJ-Slc6a19<bucp-2J>/GrsrJ | $3373.50 |
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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