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The paired-box homeodomain transcription factor Pax3 is a key regulator of the nervous system, neural crest and skeletal muscle development. Despite the important role of this transcription factor, very few direct target genes have been characterized. We show that  Itm2a,  which encodes a type 2 transmembrane protein, is a direct Pax3 target  in vivo , by combining genetic approaches and  in vivo  chromatin immunoprecipitation assays. We have generated a conditional mutant allele for  Itm2a , which is an imprinted gene, by flanking exons 2–4 with loxP sites and inserting an  IRESnLacZ  reporter in the 3′ UTR of the gene. The  LacZ  reporter reproduces the expression profile of  Itm2a , and allowed us to further characterize its expression at sites of myogenesis, in the dermomyotome and myotome of somites, and in limb buds, in the mouse embryo. We further show that  Itm2a  is not only expressed in adult muscle fibres but also in the satellite cells responsible for regeneration.  Itm2a  mutant mice are viable and fertile with no overt phenotype during skeletal muscle formation or regeneration. Potential compensatory mechanisms are discussed.

Itm2a Is a Pax3 Target Gene, Expressed at Sites of Skeletal Muscle Formation In Vivo