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The CAG promoter drives ubiquitous expression of the hamster cDNA containing nucleotide substitutions that result in the amino acid substitution of tryptophan for cysteine at position 133 (C133W). This mutation is commonly found in patients with type 1 hereditary sensory and autonomic neuropathy (HSAN1). Three lines were created (lines 8B, 8E, and 8F) with lines 8E expressing the highest levels and selected as the representative line. (J:106812)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
