title: Evaluation of Hox11L1 in the fmc/fmc rat model of chronic intestinal pseudo-obstruction.
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Pediatrics, Children's Hospital and Regional Medical Center and University of Washington, Seattle, WA 98105, USA.
authors.forename: Melissa A
authors.initials: MA
authors.lastname: Parisi
authors.forename: Neil S
authors.initials: NS
authors.lastname: Lipman
authors.forename: Christine M
authors.initials: CM
authors.lastname: Clarke
authors.forename: Brian
authors.initials: B
authors.lastname: Taylor
authors.forename: Raj P
authors.initials: RP
authors.lastname: Kapur
mesh_terms: D000818:Animals; D001483:Base Sequence; D002908:Chronic Disease; D004252:DNA Mutational Analysis; D004195:Disease Models, Animal; D005091:Exons; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007418:Intestinal Pseudo-Obstruction / Q000235:genetics*; D008531:Megacolon / Q000235:genetics; D051379:Mice; D008969:Molecular Sequence Data; D010641:Phenotype; D051381:Rats; D017422:Sequence Analysis, DNA; D017385:Sequence Homology
chemical_list: D018398:Homeodomain Proteins; C491534:TLX2 protein, human; C107836:Tlx2 protein, mouse; C511986:Tlx2 protein, rat