title: X-chromosome monosomy in the myelin-deficient rat mutant.
abstract: We have identified three examples of female Wistar rats exhibiting the tremor and seizures characteristic of the X-linked myelin deficiency (md) mutation, which is ordinarily seen only in males. Cytogenetic study of two of these animals has shown them to have 41 chromosomes instead of the normal 42. The missing chromosome was identified as an X chromosome by G-banding analysis. These animals thus have an XO genotype comparable to that in Turner's syndrome. Anatomically, one of the animals, which was studied in detail, showed no abnormality of the uterus, and the ovaries, although somewhat smaller than normal, were histologically indistinguishable from those in a normal female rat. No evidence of endocardial fibroelastosis was detected, nor was there any anomaly of the aorta. The myelin deficiency in the central nervous system was comparable to that in hemizygous mutant male rats. XO monosomy in the Wistar rat thus has little effect on phenotype and is more comparable to that in mice than to Turner's syndrome in man. The myelin-deficient rat is useful for studies of X-chromosome monosomy since XO females can readily be identified by the neurological syndrome characteristic of the md mutation.
authors.affiliation: Department of Physiology, N.Y.U. School of Medicine, New York 10016.
authors.forename: J
authors.initials: J
authors.lastname: Rosenbluth
authors.forename: M A
authors.initials: MA
authors.lastname: Perle
authors.forename: N
authors.initials: N
authors.lastname: Shirasaki
authors.forename: M
authors.initials: M
authors.lastname: Hasegawa
authors.forename: M E
authors.initials: ME
authors.lastname: Wolf
mesh_terms: D000818:Animals; D002872:Chromosome Deletion; D003582:Cytogenetics; D009006:Monosomy; D009186:Myelin Sheath / Q000648:ultrastructure; D009206:Myocardium / Q000473:pathology; D009422:Nervous System Diseases / Q000235:genetics / Q000473:pathology; D051381:Rats; D011922:Rats, Mutant Strains / Q000235:genetics*; D013116:Spinal Cord / Q000473:pathology; D014960:X Chromosome