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Synaptosomal-associated protein 29 ( SNAP29 ) encodes a member of the SNARE family of proteins implicated in numerous intracellular protein trafficking pathways.  SNAP29  maps to the 22q11.2 region and is deleted in 90% of patients with 22q11.2 deletion syndrome (22q11.2DS). Moreover, bi-allelic  SNAP29  mutations in patients are responsible for CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma) syndrome. A mouse model that recapitulates abnormalities found in these syndromes is essential for uncovering the cellular basis of these disorders. In this study, we report that mice with a loss of function mutation of  Snap29  on a mixed CD1;FvB genetic background recapitulate skin abnormalities associated with CEDNIK, and also phenocopy neurological and ophthalmological abnormalities found in CEDNIK and a subset of 22q11.2DS patients. Our work also reveals an unanticipated requirement for  Snap29  in male fertility and supports contribution of hemizygosity for  SNAP29  to the phenotypic spectrum of abnormalities found in 22q11.2DS patients.

Snap29 mutant mice recapitulate neurological and ophthalmological abnormalities associated with 22q11 and CEDNIK syndrome