Data from: Reliable and fast genotyping protocol for galactosylceramidase (GALC) in the Twitcher (Twi) mouse

<p><span>The Twitcher (Twi) mouse is a neurological Krabbe disease (KD, or globoid cell leukodystrophy) spontaneous mutant line. The genome of the Twi mouse presents a single nucleotide polymorphism (SNP), leading to an enzymatically inactive galactosylceramidase (GALC) protein and causing KD. In this context, mouse Twi genotyping is an essential step in KD research. To date,</span><span> the genotyping method used is labor-intensive and often drives ambiguous results</span><span>.</span><span> </span><span>Here, we evaluate a novel protocol for the genotype determination of GALC mutation status in Twi mice based on the allele-discrimination real-time polymerase chain reaction (PCR).</span><br><br><span>DNA is extracted from Twi mice (n = 20, pilot study; n = 120, verification study) and control group (n = 10, pilot study; n = 30 verification study) and assessed by allele-discrimination real-time PCR to detect SNP c.355G&gt;A.</span><br><br><span>Using the allele-discrimination PCR, all the samples are identified correctly with the genotype GG (wild-type, WT), GA (heterozygote, HET), or AA (homozygote, HOM) by the first analysis and no animals were not genotyped.</span><br><br><span>We demonstrated that this novel method can be used to distinguish timely, accurately and without </span><span>ambiguity among </span><span>HOM, WT, and HET animals. This protocol represents a great opportunity to increase accuracy and speed in KD research.</span></p>