Article
In-frame deletion of SPECC1L microtubule association domain results in gain-of-function phenotypes affecting embryonic tissue movement and fusion events.
Human molecular genetics - 17 Dec 2021
Goering Jeremy P, Wenger Luke W, Stetsiv Marta, Moedritzer Michael, Hall Everett G, Isai Dona Greta, Jack Brittany M, Umar Zaid, Rickabaugh Madison K, Czirok Andras, Saadi Irfan
Abstract excerpt
Patients with autosomal dominant SPECC1L variants show syndromic malformations, including hypertelorism, cleft palate and omphalocele. These SPECC1L variants largely cluster in the second coiled-coil domain (CCD2), which facilitates association with microtubules. To study SPECC1L function in mice, we first generated a null allele (Specc1lΔEx4) lacking the entire SPECC1L protein. Homozygous mutants for these...
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