Article
Mouse mutants carrying deletions that remove the genes mutated in Coffin-Lowry syndrome and lactic acidosis.
Human molecular genetics - 1 Mar 1998
Blair H J, Gormally E, Uwechue I C, Boyd Y
Abstract excerpt
The mouse X-linked mutants lined and stripey are associated with lethality of affected males in utero and a striping of the coat in carrier females. We demonstrate that the underlying mutations are nested deletions which lie in the Phex-Amelx chromosomal segment conserved between man and mouse. T...
Topics
- Abnormalities, Multiple
- Acidosis, Lactic
- Animals
- Animals, Newborn
- Body Weight
- Chromosome Mapping
- Crosses, Genetic
- Female
- Gene Deletion
- Genetic Carrier Screening
- Humans
- Male
- Mice
- Mice, Inbred C3H
- Mice, Mutant Strains
- Muridae
- Phenotype
- Pyruvate Dehydrogenase Complex