title: Aspartoacylase gene knockout in the mouse: impact on reproduction.
abstract: Canavan disease (CD) is an autosomal recessive disorder caused by aspartoacylase (ASPA) gene mutations resulting enzyme deficiency. The homozygous knockout mouse for CD showed symptoms similar observed in patients with CD. Canavan disease leads to early death. Therefore, a role of ASPA in reproduction was investigated using the mouse model for CD. Homozygous (KO/KO) pups, produced by mating female heterozygous (KO/+) mouse with KO/+ males had approximately 12% death incidence rates in the first 2 months of life. KO/KO mothers mated with KO/+ males showed fetal death. KO/KO mothers produced fewer offspring compared to KO/+ mothers. These data suggest that ASPA is necessary for normal reproduction and postnatal survival.
authors.affiliation: Department of Internal Medicine, The University of Texas Medical Branch, Galveston, TX 77555, USA. ssurendr@utmb.edu
authors.forename: Sankar
authors.initials: S
authors.lastname: Surendran
authors.forename: Sylvia
authors.initials: S
authors.lastname: Szucs
authors.forename: Stephen K
authors.initials: SK
authors.lastname: Tyring
authors.forename: Reuben
authors.initials: R
authors.lastname: Matalon
mesh_terms: D000581:Amidohydrolases / Q000172:deficiency / Q000235:genetics*; D000818:Animals; D017825:Canavan Disease / Q000201:enzymology* / Q000235:genetics* / Q000503:physiopathology; D004195:Disease Models, Animal; D005313:Fetal Death / Q000235:genetics; D005808:Genes, Recessive; D006720:Homozygote; D051379:Mice; D018345:Mice, Knockout; D008957:Models, Genetic; D009154:Mutation; D012098:Reproduction / Q000235:genetics*
chemical_list: D000581:Amidohydrolases; C019751:aspartoacylase