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Glycine codon 1663 (GGC) in exon 28 was changed to serine (AGC) (p.G1663S) and a loxP site, a neomycin resistance gene cassette, a cre gene cassette and a second loxP site were inserted into intron 27. The neo and cre cassettes auto-excised. The mutation is the equivalent of the human p.G1662S gain-of-function mutation associated with idiopathic painful small fiber neuropathy (SFN). (J:342722)
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
