PMID: 3754305Apr 1, 1986Paper

Further experience of the mouse dominant cataract mutation test from an experiment with ethylnitrosourea

Mutation Research
J D West, G Fisher

Abstract

6 mice with inherited cataracts and 1 new allele of microphthalmia were recovered from 923 progeny of untreated, outbred, PT stock females that had been mated to inbred C3H/HeH strain males, whose spermatogonia had been exposed to 250 mg/kg of ethylnitrosourea (ENU). The cataract phenotypes were quite variable in expression and 5/6 showed a similar range of phenotypes. 2 of the 6 mutant mice were daughters of the same ENU-treated C3H/HeH male and probably represent repeats of the same mutation. One mutation, designated lens opacity-4 (Lop-4), has been genetically mapped to the distal region of chromosome 2. The yield of 5 presumably independent cataract mutations from 923 F1 offspring is a little higher than that reported by others in similar but larger scale experiments. Approximately 3-5% of the F1 mice examined had cataracts, yet only 6/49 (12%) of these, in the experimental group, were inherited as simple Mendelian traits. We consider that this high frequency of false positives (88%), and the incomplete penetrance and variable expressivity of the cataract mutations that were found, pose serious problems that could undermine the objective nature of the dominant cataract mutation test. We suggest that further studies be made ...Continue Reading

Citations

Jan 1, 1992·Mammalian Genome : Official Journal of the International Mammalian Genome Society·L D Siracusa, C M Abbott
Jul 1, 1997·Mammalian Genome : Official Journal of the International Mammalian Genome Society·M K DuncanS I Tomarev
Sep 1, 1997·Mammalian Genome : Official Journal of the International Mammalian Genome Society·R JiangT Gridley
Dec 9, 1997·Mammalian Genome : Official Journal of the International Mammalian Genome Society·C W SongK Esaki
Feb 5, 1999·Progress in Retinal and Eye Research·J Graw
Aug 19, 2007·American Journal of Human Genetics·Alan ShielsPhyllis I Hanson
Jan 1, 1995·Current Eye Research·J F HessP G FitzGerald
Nov 28, 2009·The Journal of Veterinary Medical Science·Tomohiro KondoToshiya Okada
Jan 1, 1991·Mammalian Genome : Official Journal of the International Mammalian Genome Society·L D Siracusa, C M Abbott
Mar 28, 2003·Ophthalmic Genetics·Jochen Graw, Jana Löster

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