Additional file 1.

Genotype and screening assays. (A). A 2% agarose gel showing the results of the genotyping reaction across the 5' loxP site. Lanes 1–4, 6, and positive control are from heterozygote animals and exhibit two bands: 190 bp (wild-type) and 225 bp, which contains the flank sequences as well as the loxP site. Lane 5, homozygous for the wild-type Mut locus, has a single wild-type band while lane 7, a homozygous Mut knock-out, has a single loxP site. Para-nitroanaline (PNA) reactivity of 3.5 μl of urine from each animal yields an emerald green positive reaction for the Mut mutant. The bottom of the panel shows the standards for the PNA reaction: A-10 mM, B-100 mM, C-1 mM, D-blank. The affected animal (number 7) appears to have a urinary MMA concentration between 10 and 100 mM.

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Chandler et al. BMC Medical Genetics 2007 8:64   doi:10.1186/1471-2350-8-64