Analysis of the Pax-3 gene in the mouse mutant splotch

Genomics. 1993 Aug;17(2):355-63. doi: 10.1006/geno.1993.1332.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • 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


  • Oligodeoxyribonucleotides