Analysis Tools
integument
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• homozygotes have a pale yellow coat color on an otherwise albino background and the fur fluoresces under long range UV light
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pigmentation
homeostasis/metabolism
| N |
• 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, and 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
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hearing/vestibular/ear
| N |
• auditory brainstem response analysis on three homozygotes at two months of age was normal
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