Background/purpose: The spontaneous rat mutation, familial megacecum and colon (fmc), is responsible for an autosomal recessive phenotype similar to intestinal pseudo-obstruction observed in Hox11L1-/- mice. We hypothesized that fmc is a mutant allele of the rat Hox11L1 gene and tested this hypothesis by direct sequencing.
Methods: DNA was extracted from fmc/fmc rats and wild-type littermates. All exons, introns, and DNA 5' to the transcriptional start site of rat Hox11L1 were directly sequenced, and data from the mutant and wild-type animals were compared with each other and corresponding genomic data from humans and mice.
Results: Alignment of sequences obtained from rat, human, and mouse indicates that putative regulatory elements of the Hox11L1 gene are conserved in rat, mice, and humans. No mutations were identified in the Hox11L1 allele of fmc/fmc rats.
Conclusions: Despite the phenotypic similarities between fmc/fmc rats and Hox11L1-/- mice, fmc does not appear to be a mutant allele of the Hox11L1 gene.