The gene for soluble N-ethylmaleimide sensitive factor attachment protein α is mutated in hydrocephaly with hop gait (hyh) mice

Hee Kyung Hong, Aravinda Chakravarti, Joseph S. Takahashi

Research output: Contribution to journalArticle

Abstract

The spontaneous autosomal recessive mouse mutant for hydrocephaly with hop gait (hyh) exhibits dramatic cystic dilation of the ventricles at birth and invariably develops hopping gait. We show that the gene for soluble N-ethylmaleimide sensitive factor attachment protein α, also known as α-SNAP, is mutated in hyh mice. α-SNAP plays a key role in a wide variety of membrane fusion events in eukaryotic cells, including the regulated exocytosis of neurotransmitters. Homozygous mutant mice harbor a missense mutation M105I in a conserved residue in one of the α-helical domains. We demonstrate that the hyh mutant is not a null allele and is expressed; however, the mutant protein is 40% less abundant in hyh mice. The hyh mutant provides a valuable in vivo model to study vesicle/membrane trafficking and provides insight into the potential roles of α-SNAP in embryogenesis and brain development.

Original languageEnglish (US)
Pages (from-to)1748-1753
Number of pages6
JournalProceedings of the National Academy of Sciences of the United States of America
Volume101
Issue number6
DOIs
StatePublished - Feb 10 2004

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