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. 1992;61(2):143-5.
doi: 10.1159/000133393.

Segregation analysis reveals tight genetic linkage between the spontaneously arising neural tube defect gene splotch (Sp) and Pax-3 in an intraspecific mouse backcross

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Segregation analysis reveals tight genetic linkage between the spontaneously arising neural tube defect gene splotch (Sp) and Pax-3 in an intraspecific mouse backcross

F Mancino et al. Cytogenet Cell Genet. 1992.

Abstract

Concurrent research has recently characterized Sp2H, a radiation induced mutation at the splotch (Sp) locus, and found alterations in the murine paired box gene, Pax-3, in homozygous Sp2H DNA. It was proposed that Sp and Pax-3 are the same gene. This report presents additional genetic evidence in support of this finding through linkage studies. Southern blot analysis of genomic DNAs from a panel of 125 intraspecific [(Sp/+ x CBA/J)F1-Sp x CBA/J] backcross mice reveals no crossover between Pax-3 and the spontaneously occurring splotch allele, Sp. This positions Pax-3 within 2.9 cM of the Sp locus (95% confidence interval) and suggests tight genetic linkage between the two marker genes.

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