Loss of function mutation of mouse Snap29 on a mixed genetic background phenocopy abnormalities found in CEDNIK and 22q11.2 Deletion Syndrome patients
Vafa Keser, Jean-François Boisclair Lachance, Sabrina Shameen Alam, Youngshin Lim, Eleonora Scarlata, Apinder Kaur, Zhang Tian Fang, Shasha Lv, Pierre Lachapelle, Cristián O’Flaherty, Jeffrey Alan Golden, Loydie Anne Jerome‐Majewska
This study shows that a Snap29 loss-of-function mutation on a mixed genetic background in mice replicates multiple abnormalities seen in CEDNIK and 22q11.2DS patients, including skin, neurological, and fertility issues.
bioRxiv · Feb 24, 2019 · PreprintDevelopmental Biology