Article
Pleiotropy in microdeletion syndromes: neurologic and spermatogenic abnormalities in mice homozygous for the p6H deletion are likely due to dysfunction of a single gene.
Proceedings of the National Academy of Sciences of the United States of America - 3 Jul 1995
Rinchik E M, Carpenter D A, Handel M A
Abstract excerpt
Variability and complexity of phenotypes observed in microdeletion syndromes can be due to deletion of a single gene whose product participates in several aspects of development or can be due to the deletion of a number of tightly linked genes, each adding its own effect to the syndrome. The p6H deletion in mouse chromosome 7 presents a good model with which to address this question of multigene vs. single-gene...
Topics
- Animals
- Chromosome Mapping
- Crosses, Genetic
- Ethylnitrosourea
- Female
- Gene Deletion
- Genes, Recessive
- Genetic Carrier Screening
- Genetic Markers
- Genotype