International Mammalian Genome Society

The 16th International Mouse Genome Conference (2002)

Plenary Presentations * Oral Presentations *
Poster Presentations: Complex Genetics and Disease Modifiers * Developmental Genetics * Functional Genomics * Gene Discovery * Genetic Manipulations to Alter Gene Function * Mouse Models: Human Disease and Pharmacogenetics * Sequence Annotation and Comparative Analysis of Genomes *
Attendees * Sponsors * Table of Contents * Photographs * Awards

POSTER 90 - OVE#979, AN INSERTIONAL MOUSE MUTATION LEADING TO MALE AND FEMALE STERILITY

C Poirier
Baylor College of Medecine

2)Harrison W, 2)Overbeek P, 1)Bishop CE
1) Dpt. of Obstetrics and Gynecology 2) Dpt. of Molecular and Cell Biology Baylor College of Medecine

In order to create a panel of insertional mutations in the mouse, a transgene was inserted by microinjection into the fertilized eggs of albino FVB/N mice. This 5.5kb transgene was carrying a tyrosinase minigene (TyBS): the mouse tyrosinase cDNA under the control of its own promoter. Transgenic founders were identified by their dark coat color and mated to FVB/N. For each independent transgenic line, the carrier offspring (TyBS/+) were intercrossed, and the coat color used as an indicator of segregation for the transgene, to identify heterozygous (TyBS/+) dark mice, and homozygous carriers (TyBS/TyBS) darker mice.For the line OVE#979, the 3 genotypes of mice (non carriers, TyBS/+ and TyBS/TyBS) were born in normal Mendelian frequency and no obvious phenotype, except coat color, segregated with the transgene.For each line, 3 mating pairs of homozygous carriers (TyBS/TyBS) were set up. For OVE#979 no pups were born after 3 months of breeding, suggesting that in this line, mice homozygous for the insertion, were infertile.Additional crosses between homozygous affected (TyBS/TyBS) males and females and control FVB/N mice has shown that the insertion was leading to sterility in both sexes.The insertion was mapped by FISH to a single locus on chromosome 12B. A detailed phenotype and progress towards cloning of the underlying genetic defect will be presented.