Article
A mutation within intron 3 of the Pax-3 gene produces aberrantly spliced mRNA transcripts in the splotch (Sp) mouse mutant.
Proceedings of the National Academy of Sciences of the United States of America - 15 Jan 1993
Epstein D J, Vogan K J, Trasler D G, Gros P
Abstract excerpt
The splotch (Sp) mouse mutant displays defects in neural tube closure in the form of exencephaly and spina bifida. Recently, mutations in the Pax-3 gene have been described in the radiation-induced Spr and Sp2H alleles. This led us to examine the integrity of the Pax-3 gene and its cellular mRNA...
Topics
- Alternative Splicing
- Amino Acid Sequence
- Animals
- Base Sequence
- Cloning, Molecular
- Introns
- Mice
- Mice, Mutant Strains
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- RNA, Messenger
- Sequence Analysis, DNA