Developmental BiologybioRxivPreprint
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…·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.
DOI 10.1101/559088