Article
Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.
American journal of human genetics - 5 Dec 2013
Liegel Ryan P, Handley Mark T, Ronchetti Adam, Brown Stephen, Langemeyer Lars, Linford Andrea, Chang Bo, Morris-Rosendahl Deborah J, Carpanini Sarah, Posmyk Renata, Harthill Verity, Sheridan Eamonn, Abdel-Salam Ghada M H, Terhal Paulien A, Faravelli Francesca, Accorsi Patrizia, Giordano Lucio, Pinelli Lorenzo, Hartmann Britta, Ebert Allison D, Barr Francis A, Aligianis Irene A, Sidjanin Duska J
Abstract excerpt
blind sterile (bs) is a spontaneous autosomal-recessive mouse mutation discovered more than 30 years ago. Phenotypically, bs mice exhibit nuclear cataracts and male infertility; genetic analyses assigned the bs locus to mouse chromosome 2. In this study, we first positionally cloned the bs locus and identified a putative causative mutation in the Tbc1d20 gene. Functional analysis established the mouse TBC1D20...
Topics
- Abnormalities, Multiple
- Amino Acid Sequence
- Animals
- Base Sequence
- Brain
- Cataract
- Cell Line
- Cornea
- DNA Mutational Analysis