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Keywords :
Alleles; Alternative Splicing; Animals; Base Sequence; Chromosome Mapping; Crosses, Genetic; Female; Gene Deletion; Genetic Linkage; Heterozygote; Homozygote; Male; Mice; Mice, Inbred C3H/genetics; Mice, Neurologic Mutants/genetics; Molecular Sequence Data; Mutation; Oligodeoxyribonucleotides; Phenotype; Polymerase Chain Reaction; Transcription, Genetic
Abstract :
[en] In a linkage analysis of Pax-3 and splotch no recombinations were found in 117 backcross mice. Molecular analysis of Pax-3 in three alleles of splotch shows a number of significant alterations to the Pax-3 gene. In Sp/Sp embryos, cDNA PCR analysis reveals a shortened transcript in which exon 4 of Pax-3 is deleted due to mutation of the splice acceptor site of intron 3. In the Sp4H allele, the Pax-3 gene is deleted and in Spd embryos, Pax-3 expression is significantly lower than that in normal littermate embryos. The linkage analysis, shortened Pax-3 transcript in Sp, and deletion of Pax-3 in Sp4H described here, together with the previous report of an intragenic deletion in Pax-3 in Sp2H mice and the deletion of Pax-3 in Spr mice, provide strong evidence for the allelic identity of Pax-3 and Sp.
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