title: Evidence for an hereditary defect in taurine transport in the ciliary epithelium of an inbred strain of rabbits.
abstract: The concentration of taurine in the aqueous humour and serum of 21 rabbits with hereditary buphthalmia (Bu rabbits-genotype bu/bu) was compared with the aqueous and serum taurine levels of eight strain-related normal rabbits (JAX) and nine non-strain-related normal rabbits (MCV). There was a significant difference in the mean aqueous taurine concentration in each of the three groups. The Bu rabbits had only 29% of the MCV rabbits' level while the JAX rabbits were intermediate with 56% of the MCV level. It is suggested that some of the JAX rabbits may be heterozygous and the Bu rabbits homozygous for a semi-dominant allele of a gene that is less efficient in taurine transport in the ciliary epithelium than the normal allele represented by the MCV animals.
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism*; D000818:Animals; D001082:Aqueous Humor / Q000378:metabolism*; D001692:Biological Transport; D002924:Ciliary Body / Q000378:metabolism; D004195:Disease Models, Animal; D004848:Epithelium / Q000378:metabolism; D005901:Glaucoma / Q000151:congenital* / Q000378:metabolism; D011817:Rabbits; D013654:Taurine / Q000097:blood / Q000378:metabolism*
chemical_list: D013654:Taurine