PCR-based identification of short deletion/insertions and single nucleotide substitutions in genotyping of splotch (Pax3sp) and truncate (Nototc) mouse mutants.

Abstract excerpt

Splotch (Pax3(sp)) and truncate (Noto(tc)) are spontaneously arisen mouse mutants with disturbed embryo development. Splotch carries a Pax3 mutation and it is characterized by the neural tube defect. Corresponding mutation in human causes Waardenburg syndrome. Truncate is Noto mutant with disturbed development of the caudal notochord. In order to establish easy genotyping procedure of these mutations, it was...

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