Article
The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.
Human molecular genetics - 1 May 2019
Tona Risa, Chen Wenqian, Nakano Yoko, Reyes Laura D, Petralia Ronald S, Wang Ya-Xian, Starost Matthew F, Wafa Talah T, Morell Robert J, Cravedi Kevin D, du Hoffmann Johann, Miyoshi Takushi, Munasinghe Jeeva P, Fitzgerald Tracy S, Chudasama Yogita, Omori Koichi, Pierpaoli Carlo, Banfi Botond, Dong Lijin, Belyantseva Inna A, Friedman Thomas B
Abstract excerpt
Epilepsy, deafness, onychodystrophy, osteodystrophy and intellectual disability are associated with a spectrum of mutations of human TBC1D24. The mechanisms underlying TBC1D24-associated disorders and the functions of TBC1D24 are not well understood. Using CRISPR-Cas9 genome editing, we engineered a mouse with a premature translation stop codon equivalent to human S324Tfs*3, a recessive mutation of TBC1D24...
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