Hermaphrodism and sex reversal associated with the dominant hemimelia mutation in XY mice.
After two generations of backcrossing six different Y-consomic strains onto a C57BL/6J inbred mouse strain with a dominant hemimelia (Dh) mutation, a small percentage of Dh/+ males containing a Y chromosome from the AKR/J or RF/J strain showed hermaphrodism; they lacked the right testis and had an ovary and a uterus instead. Approximately 15% of Dh/+ females considered to be phenotypically normal had the Sry gene from the AKR/J or RF/J strain; they were actually sex-reversed XY females. Backcrossing of Y chromosomes from BALB/cA, C3H/HeJ, C57BL/6J, DH/Sgn, and DDD/Sgn onto the C57BL/6J strain with Dh did not result in hermaphrodism or sex reversal in adult mice. Subsequent linkage mapping analysis revealed that at least one C57BL/6J-derived homozygous allele at a locus on chromosome 13 was required for hermaphrodism and sex reversal. This condition was genetically distinct from known inherited sex-reversal conditions. It therefore offers a novel opportunity to investigate the genetic basis of sex determination in mammals.
Suto
Jun-ichi
J
Division of Animal Sciences, National Institute of Agrobiological Sciences, Tsukuba, Ibaraki, Japan. jsuto@arc.go.jp
D000483:Alleles; D000818:Animals; D002874:Chromosome Mapping; D012734:Disorders of Sex Development / Q000235:genetics*; D004480:Ectromelia / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D016678:Genome; D005838:Genotype; D006720:Homozygote; D007178:Inbreeding; D008297:Male; D051379:Mice; D009154:Mutation; D014960:X Chromosome / Q000235:genetics*; D014998:Y Chromosome / Q000235:genetics*