Literature DB >> 7035547

Dominant cataract mutations detected in offspring of gamma-irradiated male mice.

J Kratochvilova.   

Abstract

The technique of biomicroscopic eye examination followed by breeding tests provides a new method for detection of dominant mutations in mice. A total of 11 cataract mutations were found among 17,436 offspring of irradiated male mice. No cataract mutations were observed in 8,174 offspring from the control group. All mutations were phenotypically different. Of the 11 cataract mutations, 3 were semilethal in heterozygous condition, 7 were lethal in homozygous condition, and one presumed mutant was sterile. Seven mutations had complete penetrance whereas penetrance of three mutations was reduced. The rate of dominant mutations affecting an organ system in mice is of main importance for the quantification of the overall genetic damage due to dominant mutations in man.

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Year:  1981        PMID: 7035547     DOI: 10.1093/oxfordjournals.jhered.a109511

Source DB:  PubMed          Journal:  J Hered        ISSN: 0022-1503            Impact factor:   2.645


  2 in total

1.  Mutation in intron 6 of the hamster Mitf gene leads to skipping of the subsequent exon and creates a novel animal model for the human Waardenburg syndrome type II.

Authors:  Jochen Graw; Walter Pretsch; Jana Löster
Journal:  Genetics       Date:  2003-07       Impact factor: 4.562

2.  New mutation in the mouse Xpd/Ercc2 gene leads to recessive cataracts.

Authors:  Sarah Kunze; Claudia Dalke; Helmut Fuchs; Matthias Klaften; Ute Rössler; Sabine Hornhardt; Maria Gomolka; Oliver Puk; Sibylle Sabrautzki; Ulrike Kulka; Martin Hrabě de Angelis; Jochen Graw
Journal:  PLoS One       Date:  2015-05-07       Impact factor: 3.240

  2 in total

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