A Transgenic Neuroanatomical Marker Identifies Cranial Neural Crest Deficiencies Associated with the Pax3 Mutant Splotch

摘要: The murine Pax3 gene encodes a transcription factor containing paired domain as well paired-type homeodomain. Its expression during embryonic development is temporally and spatially restricted, including mainly the dorsal part of neural tube, mesencephalon, crest derivatives, dermomyotome. Development in absence can be studied Splotch mutant mice, which bear mutations within gene. Various alleles have been phenotypically molecularly characterized. Abnormalities observed brain, trunk derivatives muscles these mutants. importance PAX3 human embryonal readily seen Waardenburg patients, who present dominant inherited syndrome consisting craniofacial abnormalities, pigmentation deficiencies, deafness, consecutive to mutations. In order analyze nervous system embryos more detail, we employed transgenic mouse line L17. These mice harbor beta-galactosidase marker under control Hoxa-7 promoter elements. Probably combination with cis-elements adjacent integration site L17 transgene, elements drive major parts peripheral system, restricted central system. structures visualized development, allowing detailed neuroanatomical studies midgestation embryos. We describe wild-type demonstrate applicability study then apply this experimental analysis Our findings underline crest-derived structures, especially cranial ganglia nerves. suggest use valuable tool perform similar for other phenotypes.