Analysis of the Pax-3 gene in the mouse mutant splotch.
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.
Goulding
M
M
Department of Molecular Cell Biology, Max Planck Institute for Biophysical Chemistry, Gottingen, Germany.
Sterrer
S
S
Fleming
J
J
Balling
R
R
Nadeau
J
J
Moore
K J
KJ
Brown
S D
SD
Steel
K P
KP
Gruss
P
P
D000483:Alleles; D017398:Alternative Splicing; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D003433:Crosses, Genetic; D005260:Female; D017353:Gene Deletion; D008040:Genetic Linkage; D006579:Heterozygote; D006720:Homozygote; D008297:Male; D051379:Mice; D008809:Mice, Inbred C3H / Q000235:genetics; D008818:Mice, Neurologic Mutants / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D009838:Oligodeoxyribonucleotides; D010641:Phenotype; D016133:Polymerase Chain Reaction; D014158:Transcription, Genetic
D009838:Oligodeoxyribonucleotides