Nmf11 is a novel ENU-induced mutation in the mouse glycine receptor alpha 1 subunit.
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 NH(2) 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.
Traka
Maria
M
Jack Miller Center for Peripheral Neuropathy, Department of Neurology, The University of Chicago, Chicago, Illinois 60637, USA.
Seburn
Kevin L
KL
Popko
Brian
B
D000595:Amino Acid Sequence; D000818:Animals; D005038:Ethylnitrosourea; D006720:Homozygote; D007150:Immunohistochemistry; D051379:Mice; D008810:Mice, Inbred C57BL; D008969:Molecular Sequence Data; D016296:Mutagenesis; D017354:Point Mutation; D018009:Receptors, Glycine / Q000235:genetics* / Q000378:metabolism
C000657605:Glra1 protein, mouse; D018009:Receptors, Glycine; D005038:Ethylnitrosourea