Literature DB >> 8812430

Chromosomal localization of a new mouse lens opacity gene (lop18)

B Chang1, N L Hawes, R S Smith, J R Heckenlively, M T Davisson, T H Roderick.   

Abstract

Examination of mouse strains with a slit lamp and indirect ophthalmoscopy revealed that strain CBA/CaGnLe has a white cataract obvious at weaning age. It soon progresses to a large white nuclear cataract with mild cortical changes. Crosses with C57BL/6J showed that this is inherited as a single recessive fully penetrant gene, which we have designated lop18 (lens opacity 18). Linkage analysis using visible marker T (brachyury), histocompatibility marker H2, and microsatellite markers D17Mit21, D17Mit28, D17Mit38, and D17Mit46 shows that the lop18 gene is located, approximately 16 cM from the centromere on mouse Chromosome 17. It is a likely candidate mutation for the alpha-crystallin (Crya1) gene.

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Year:  1996        PMID: 8812430     DOI: 10.1006/geno.1996.0439

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  5 in total

1.  Early transposable element insertion in intron 9 of the Hsf4 gene results in autosomal recessive cataracts in lop11 and ldis1 mice.

Authors:  Elijah Talamas; Lavinia Jackson; Matthew Koeberl; Todd Jackson; John L McElwee; Norman L Hawes; Bo Chang; Monica M Jablonski; D J Sidjanin
Journal:  Genomics       Date:  2006-04-03       Impact factor: 5.736

2.  A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.

Authors:  E Héon; A D Paterson; M Fraser; G Billingsley; M Priston; A Balmer; D F Schorderet; A Verner; T J Hudson; F L Munier
Journal:  Am J Hum Genet       Date:  2001-02-05       Impact factor: 11.025

3.  A mutation in the start codon of γ-crystallin D leads to nuclear cataracts in the Dahl SS/Jr-Ctr strain.

Authors:  Ashley C Johnson; Jonathan W Lee; Ashlyn C Harmon; Zaliya Morris; Xuexiang Wang; Jonathan Fratkin; John P Rapp; Elise Gomez-Sanchez; Michael R Garrett
Journal:  Mamm Genome       Date:  2013-02-13       Impact factor: 2.957

4.  Mechanism of cataract formation in alphaA-crystallin Y118D mutation.

Authors:  Qingling Huang; Linlin Ding; Kim B Phan; Catherine Cheng; Chun-hong Xia; Xiaohua Gong; Joseph Horwitz
Journal:  Invest Ophthalmol Vis Sci       Date:  2009-01-17       Impact factor: 4.799

Review 5.  Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.

Authors:  B Tedesco; R Cristofani; V Ferrari; M Cozzi; P Rusmini; E Casarotto; M Chierichetti; F Mina; M Galbiati; M Piccolella; V Crippa; A Poletti
Journal:  Front Mol Biosci       Date:  2022-02-25
  5 in total

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