Reference : Analysis of the Pax-3 gene in the mouse mutant splotch.
Scientific journals : Article
Life sciences : Genetics & genetic processes
Analysis of the Pax-3 gene in the mouse mutant splotch.
Goulding, M. [> >]
Sterrer, S. [> >]
Fleming, J. [> >]
Balling, Rudi mailto []
Nadeau, J. [> >]
Moore, K. J. [> >]
Brown, S. D. [> >]
Steel, K. P. [> >]
Gruss, P. [> >]
Yes (verified by ORBilu)
[en] 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
[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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