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A G-to-T transversion at coding cDNA nucleotide 4189 (c.4189G>T in GenBank NM_007578) leads to an arginine-to-leucine substitution at amino acid position 1303 (p.R1303L), in the highly conserved, positively charged transmembrane segment S4 of repeat III of the encoded protein. Levels of transcript and protein encoded by the gene are similar in brains of mutant and wild-type mice. (J:119639)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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References Literature
Title
PMID
Journal
Year
IF
