Philly mouse: A new model of hereditary cataract

Kador, Peter F.; Fukui, Henry N.; Fukushi, S; Jernigan, Howard M.; Kinoshita, Jin H.

doi:10.1016/0014-4835(80)90124-4

Cited by 83 publications

(31 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…For example, mutations in ␤-and ␥-crystallin genes have been demonstrated to be the cause of lens fiber cell differentiation defects and cataracts in naturally occurring mutant mice (22)(23)(24)(25). The stage at which the c-maf Ϫ/Ϫ lens defect becomes apparent (E12) correlates with the initiation of ␥-crystallin gene expression (4).…”

Section: Resultsmentioning

confidence: 99%

Requirement for the c-Maf transcription factor in crystallin gene regulation and lens development

Kim

et al. 1999

Proc. Natl. Acad. Sci. U.S.A.

222

170

View full text Add to dashboard Cite

show abstract

Section: Resultsmentioning

confidence: 99%

Requirement for the c-Maf transcription factor in crystallin gene regulation and lens development

Kim

et al. 1999

Proc. Natl. Acad. Sci. U.S.A.

222

170

View full text Add to dashboard Cite

show abstract

“…The Philly mouse has a nuclear and subcapsular cataract 34 caused by a mutation in one of the crystallin genes 35 and the Elo mouse, which is a model for microphthalmia secondary to abnormal lens formation 36 is caused by a mutation in one of the crystallin genes. 37 A mutation in the gene for the major intrinsic protein (MIP) of the lens fibre cell membranes has been implicated as causing the cataracts in both the Cat [Fr] mouse and the Lop mouse.…”

Section: Discussionmentioning

confidence: 99%

The clinical and genetic heterogeneity of autosomal dominant cataract

Ionides

Berry

Moore

et al. 1996

Acta Ophthalmologica Scandinavica

View full text Add to dashboard Cite

Aims-To determine the diVerent morphologies of autosomal dominant cataract (ADC), assess the intra-and interfamilial variation in cataract morphology, and undertake a genetic linkage study to identify loci for genes causing ADC and detect the underlying mutation. Methods-Patients were recruited from the ocular genetic database at Moorfields Eye Hospital. All individuals underwent an eye examination with particular attention to the lens including anterior segment photography where possible. Blood samples were taken for DNA extraction and genetic linkage analysis was carried out using polymorphic microsatellite markers. Results-292 individuals from 16 large pedigrees with ADC were examined, of whom 161 were found to be aVected. The cataract phenotypes could all be described as one of the eight following morphologies-anterior polar, posterior polar, nuclear, lamellar, coralliform, blue dot (cerulean), cortical, and pulverulent. The phenotypes varied in severity but the morphology was consistent within each pedigree, except in those aVected by the pulverulent cataract, which showed considerable intrafamilial variation. Positive linkage was obtained in five families; in two families linkage was demonstrated to new loci and in three families linkage was demonstrated to previously described loci. In one of the families the underlying mutation was isolated. Exclusion data were obtained on five families. Conclusions-Although there is considerable clinical heterogeneity in ADC, the phenotype is usually consistent within families. There is extensive genetic heterogeneity and specific cataract phenotypes appear to be associated with mutations at more than one chromosome locus. In cases where the genetic mutation has been identified the molecular biology and clinical phenotype are closely associated. (Br J Ophthalmol 1999;83:802-808)

show abstract

“…Similarly, a leakage of y-crystallin (Nakano mice) and y-and B-crystallin (Philly mice) in the anterior chamber of the eye have been reported during cataractogenesis at 40 and 30 days after birth respectively (Russel, Smith, Carper andKinoshita, 1979: Zigler. Carper andKinoshita, 1981;Iwata and Kinoshita, 1971;Kador, Fukui. Fukushi, Jernigan and Kinoshita.…”

Section: Discussionmentioning

confidence: 99%

Immunohistochemical studies of lens crystallins in the dysgenetic lens (dyl) mutant mice

Brahma

Sanyal

1984

Experimental Eye Research

View full text Add to dashboard Cite

The lens in the dyl mutant mice shows a persistent lens-ectodermal connection as well as degeneration and extrusion of lens materials after the initial differentiation of the fibres. Immunohistochemical investigation of the ontogeny of the lens crystallins in this developing mutant lens has been carried out using the indirect immunofluorescence staining method with antiserum to adult mouse lens total soluble proteins. The results have been compared with those for coisogenic normal lens used as 8 control. In both, the first positive reaction was detectable at identical stages of lens development. A rapid increase in the intensity of fluorescence, most marked in the elongating fibre progressing through the equatorial region to the epithelium, was recorded in the mutant as well as in the normal lens. However. the stalk leading to the lens epithelium did not show any reaction. Appearance of vacuoles in the lens nucleus and cortex marked the beginning of degeneration of fibres which otherwise showed strong fluorescence. This was followed by extrusion of lens crystallin materials through the stalk. As a result, the lens became increasingly reduced and malformed but the surviving cells making up the vestigeal lens in the adult showed positive immunofluorescence. The results demonstrate that despite a failure of lensrctoderm separation in the mutant mice, the ontogeny of the lens crystallins and differentiation of the lens up to a certain stage of development follow an apparently normal course before the commencement of catarsctous degeneration.

show abstract

Philly mouse: A new model of hereditary cataract

Cited by 83 publications

References 6 publications

Requirement for the c-Maf transcription factor in crystallin gene regulation and lens development

Requirement for the c-Maf transcription factor in crystallin gene regulation and lens development

The clinical and genetic heterogeneity of autosomal dominant cataract

Immunohistochemical studies of lens crystallins in the dysgenetic lens (dyl) mutant mice

Contact Info

Product

Resources

About