Article
The novel tetratricopeptide repeat domain 7 mutation, Ttc7fsn-Jic, with deletion of the TPR-2B repeat causes severe flaky skin phenotype.
Experimental biology and medicine (Maywood, N.J.) - 1 May 2007
Takabayashi Shuji, Iwashita Shuichi, Hirashima Tsukasa, Katoh Hideki
Abstract excerpt
We carried out molecular analyses of the novel flaky skin mutation, Ttc7(fsn-Jic )(a synonym for fsn(Jic)), which we found in a previous study. It was revealed that this mutation involved a genomic in-frame deletion including exons 9 and 10 of the Ttc7 gene, and that the genomic deletion in Ttc7 (fsn-Jic )may disrupt the tetratricopeptide repeat-2B domain of the TTC7 protein. Based on a comparison of three Ttc7...
Topics
- Animals
- Base Sequence
- Blotting, Northern
- DNA Mutational Analysis
- Exons
- Gene Expression Profiling
- Male
- Mice
- Mice, Inbred C57BL
- Mice, Mutant Strains
- Molecular Sequence Data
- Mutation
- Phenotype
- Proteins