Article
A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene.
Nature genetics - 1 Mar 1993
Hui C C, Joyner A L
Abstract excerpt
Greig cephalopolysyndactyly syndrome (GCPS) is an autosomal dominant disorder affecting limb and craniofacial development. Recently, the human GLI3 gene has been proposed to be a candidate gene for GCPS. Here we describe the molecular characterization of extra-toes (Xt), which is a mouse model of...
Topics
- Alleles
- Animals
- Blotting, Southern
- DNA
- Disease Models, Animal
- Embryo, Mammalian
- Facial Bones
- Gene Deletion
- Homozygote
- Humans
- Introns
- Mice
- Mice, Inbred C3H
- Mice, Mutant Strains
- Phenotype
- Skull
- Syndactyly
- Syndrome
