Literature DB >> 1399425

Autosomal dominant mouse cataract (Lop-10). Consistent differences of expression in heterozygotes.

P E Runge1, N L Hawes, J R Heckenlively, S H Langley, T H Roderick.   

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.

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Year:  1992        PMID: 1399425

Source DB:  PubMed          Journal:  Invest Ophthalmol Vis Sci        ISSN: 0146-0404            Impact factor:   4.799


  10 in total

Review 1.  Lens gap junctions in growth, differentiation, and homeostasis.

Authors:  Richard T Mathias; Thomas W White; Xiaohua Gong
Journal:  Physiol Rev       Date:  2010-01       Impact factor: 37.312

2.  Dense cataract and microphthalmia (dcm) in BALB/c mice is caused by mutations in the GJA8 locus.

Authors:  Baskar Bakthavachalu; Sarmishtha Kalanke; Sanjeev Galande; B Ramanamurthy; Pradeep Parab; Kalidas N Kohale; Vasudevan Seshadri
Journal:  J Genet       Date:  2010-08       Impact factor: 1.166

3.  Mapping of new recessive cataract gene (lr2) in the mouse.

Authors:  C W Song; M Okumoto; N Mori; J S Kim; S S Han; K Esaki
Journal:  Mamm Genome       Date:  1997-12       Impact factor: 2.957

4.  The cataract causing Cx50-S50P mutant inhibits Cx43 and intercellular communication in the lens epithelium.

Authors:  Adam M DeRosa; Gülistan Meşe; Leping Li; Caterina Sellitto; Peter R Brink; Xiaohua Gong; Thomas W White
Journal:  Exp Cell Res       Date:  2009-01-30       Impact factor: 3.905

5.  Diverse roles of Eph/ephrin signaling in the mouse lens.

Authors:  Catherine Cheng; Xiaohua Gong
Journal:  PLoS One       Date:  2011-11-29       Impact factor: 3.240

6.  A Population Study of Common Ocular Abnormalities in C57BL/6N rd8 Mice.

Authors:  Bret A Moore; Michel J Roux; Lionel Sebbag; Ann Cooper; Sydney G Edwards; Brian C Leonard; Denise M Imai; Stephen Griffey; Lynette Bower; Dave Clary; K C Kent Lloyd; Yann Hérault; Sara M Thomasy; Christopher J Murphy; Ala Moshiri
Journal:  Invest Ophthalmol Vis Sci       Date:  2018-05-01       Impact factor: 4.799

7.  Mutation in the mouse histone gene Hist2h3c1 leads to degeneration of the lens vesicle and severe microphthalmia.

Authors:  Sharmilee Vetrivel; Natascia Tiso; Andrea Kügler; Martin Irmler; Marion Horsch; Johannes Beckers; Daniela Hladik; Florian Giesert; Valerie Gailus-Durner; Helmut Fuchs; Sibylle Sabrautzki; Martin Hrabě de Angelis; Jochen Graw
Journal:  Exp Eye Res       Date:  2019-04-13       Impact factor: 3.467

Review 8.  Connexin Mutations and Hereditary Diseases.

Authors:  Yue Qiu; Jianglin Zheng; Sen Chen; Yu Sun
Journal:  Int J Mol Sci       Date:  2022-04-12       Impact factor: 6.208

9.  Cataracts and microphthalmia caused by a Gja8 mutation in extracellular loop 2.

Authors:  Chun-Hong Xia; Bo Chang; Adam M Derosa; Catherine Cheng; Thomas W White; Xiaohua Gong
Journal:  PLoS One       Date:  2012-12-26       Impact factor: 3.240

10.  Loss of AND-34/BCAR3 expression in mice results in rupture of the adult lens.

Authors:  Richard I Near; Richard S Smith; Paul A Toselli; Thomas F Freddo; Alexander B Bloom; Pierre Vanden Borre; David C Seldin; Adam Lerner
Journal:  Mol Vis       Date:  2009-04-03       Impact factor: 2.367

  10 in total

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