title: Autosomal dominant mouse cataract (Lop-10). Consistent differences of expression in heterozygotes.
abstract: The clinical and histologic features are reported of an autosomal dominant mouse cataract that was first observed as a new mutation in a cross between BALB/cJ and AKR/J. In the homozygous state, the eyes were microphthalmic, and a dense white cataract was present when the eyes opened at day 12. Histologic changes were apparent from birth and as early as 18 days' gestation. Liquefaction started by day 4, and herniation of lens contents posteriorly was seen at day 11. Heterozygous mice had variable expression depending both on their genetic background and age. When the single gene was expressed fully, the cataract appeared as a fetal nuclear white opacity; partial expression gave a nuclear haze to snowflake nuclear opacities. Lop-10 appeared to be an excellent model for studying variable expression of a dominant gene.
authors.affiliation: Jules Stein Eye Institute, UCLA Medical Center.
authors.forename: P E
authors.initials: PE
authors.lastname: Runge
authors.forename: N L
authors.initials: NL
authors.lastname: Hawes
authors.forename: J R
authors.initials: JR
authors.lastname: Heckenlively
authors.forename: S H
authors.initials: SH
authors.lastname: Langley
authors.forename: T H
authors.initials: TH
authors.lastname: Roderick
mesh_terms: D000818:Animals; D002386:Cataract / Q000235:genetics* / Q000473:pathology; D004195:Disease Models, Animal; D015870:Gene Expression; D007908:Lens, Crystalline / Q000473:pathology; D051379:Mice; D008806:Mice, Inbred AKR / Q000235:genetics; D008807:Mice, Inbred BALB C / Q000235:genetics; D008850:Microphthalmos / Q000473:pathology; D009154:Mutation