Nmf11 is an N-ethyl-N-nitrosourea–induced recessive mouse mutation. In this article we show that the mutation is in the gene that encodes the glycine receptor alpha 1 subunit (Glra1). The new Glra1 mutation appears to affect glycine’s inhibitory neurotransmission in the central nervous system (CNS) of the nmf11 homozygotes, which suffer from a severe startle disease–related phenotype and die by postnatal day 21. The nmf11 mutation involves a C-to-A transition of nucleotide 518, which results in the N46K substitution in the long extracellular NH2 terminal or ligand-binding domain of the GLRA1 mature protein. The mutation does not result in reduced expression of GLRA1 at the mRNA or protein levels and the mutant glycine receptor localizes properly in synaptic sites of nmf11 homozygotes.
Mammalian Genome – Springer Journals
Published: Sep 8, 2006
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