{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Keser V"],"funding":["Gouvernement du Canada | Instituts de Recherche en Santé du Canada | CIHR Skin Research Training Centre","CIHR"],"pagination":["375"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6789041"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["2"],"pubmed_abstract":["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 "],"journal":["Communications biology"],"pubmed_title":["Snap29 mutant mice recapitulate neurological and ophthalmological abnormalities associated with 22q11 and CEDNIK syndrome."],"pmcid":["PMC6789041"],"funding_grant_id":["MOP142452","MOP#142452"],"pubmed_authors":["Alam SS","Lachance JB","Zhang TF","O'Flaherty C","Jerome-Majewska LA","Lim Y","Lv S","Golden JA","Lachapelle P","Keser V","Kaur A","Scarlata E"],"additional_accession":[]},"is_claimable":false,"name":"Snap29 mutant mice recapitulate neurological and ophthalmological abnormalities associated with 22q11 and CEDNIK syndrome.","description":"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 ","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019","modification":"2025-05-29T20:19:19.055Z","creation":"2025-05-29T20:19:19.055Z"},"accession":"S-EPMC6789041","cross_references":{"pubmed":["31633066"],"doi":["10.1038/s42003-019-0601-5"]}}