Ontology highlight
ABSTRACT:
SUBMITTER: Hong HK
PROVIDER: S-EPMC341847 | biostudies-literature | 2004 Feb
REPOSITORIES: biostudies-literature
Hong Hee-Kyung HK Chakravarti Aravinda A Takahashi Joseph S JS
Proceedings of the National Academy of Sciences of the United States of America 20040130 6
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 alpha, also known as alpha-SNAP, is mutated in hyh mice. alpha-SNAP plays a key role in a wide variety of membrane fusion events in eukaryotic cells, including the regulated exocytosis of neurotransmitters. Homozygous mutant mic ...[more]