Evaluation of Hox11L1 in the fmc/fmc rat model of chronic intestinal pseudo-obstruction.
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.
Parisi
Melissa A
MA
Department of Pediatrics, Children's Hospital and Regional Medical Center and University of Washington, Seattle, WA 98105, USA.
Lipman
Neil S
NS
Clarke
Christine M
CM
Taylor
Brian
B
Kapur
Raj P
RP
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
D018398:Homeodomain Proteins; C491534:TLX2 protein, human; C107836:Tlx2 protein, mouse; C511986:Tlx2 protein, rat