Article
A mutation in the tuft mouse disrupts TET1 activity and alters the expression of genes that are crucial for neural tube closure.
Disease models & mechanisms - 1 May 2016
Fong Keith S K, Hufnagel Robert B, Khadka Vedbar S, Corley Michael J, Maunakea Alika K, Fogelgren Ben, Ahmed Zubair M, Lozanoff Scott
Abstract excerpt
Genetic variations affecting neural tube closure along the head result in malformations of the face and brain. Neural tube defects (NTDs) are among the most common birth defects in humans. We previously reported a mouse mutant called tuft that arose spontaneously in our wild-type 3H1 colony. Adult tuft mice present midline craniofacial malformations with or without an anterior cephalocele. In addition, affected...
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