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Dense Cataract and Microphthalmia—New Spontaneous Mutation in BALB/c Mice

机译:BALB / c小鼠中的密集白内障和小眼症新自发突变

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WedescribeanewspontaneousmutationinBALB/cmicethatcausesabnormalphenotype,suchascongenitalcataractandmicrophthalmia.Thisabnormalitywasfoundtobeinheritablebecauseoffspringwiththesameabnormalitywereproducedbybackcrossingtheabnormalmaletoitsnormalfemaleparent.Resultsofvariouscrossesmadetodeterminethemodeofinheritanceindicatedthatthisabnormalityisattributabletomutationofanautosomalrecessivegene.Slitlampexaminationofthemutanteyesrevealedtotallenticularopacity,disturbedtypicalirispattern,andabnormalpupillarymuscledevelopment.Histologicchangesinmutanteyesbetweengestationday13andpostnatalday1indicatedvariouseyeandlensabnormalities,includingmicrophthalmia;underdevelopediris,opticstalk,cornea,andretina;degeneratedlensfiberswithlostfibrillarstructure;andvacuolesofvarioussizesattheposteriorborderofthelens.Mildopacityofthelenswasfoundtoprogresswithageandbecamedenser,resemblingmaturecataract,andoccupyingthelenscompletelyattheageofsixtoeightweeks.We,therefore,temporarilydesignatedthisabnormalityasdensecataractandmicrophthalmia,withthegenesymboldcm.
机译:WedescribeanewspontaneousmutationinBALB / cmicethatcausesabnormalphenotype,suchascongenitalcataractandmicrophthalmia.Thisabnormalitywasfoundtobeinheritablebecauseoffspringwiththesameabnormalitywereproducedbybackcrossingtheabnormalmaletoitsnormalfemaleparent.Resultsofvariouscrossesmadetodeterminethemodeofinheritanceindicatedthatthisabnormalityisattributabletomutationofanautosomalrecessivegene.Slitlampexaminationofthemutanteyesrevealedtotallenticularopacity,disturbedtypicalirispattern,andabnormalpupillarymuscledevelopment.Histologicchangesinmutanteyesbetweengestationday13andpostnatalday1indicatedvariouseyeandlensabnormalities,includingmicrophthalmia; underdevelopediris,opticstalk,角膜,andretina; degeneratedlensfiberswithlostfibrillarstructure; andvacuolesofvarioussizesattheposteriorborderofthelens.Mildopacityofthelenswasfoundtoprogresswithageandbecamedenser,resemblingmaturecataract,andoccupyingthelenscompletelyattheageofsixtoeightweeks.We,因此,temporarilydesignatedthisabnormalityasdens伴有白内障和小眼症的基因征。

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