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Proline codon 497 (CCC) was changed to tyrosine (TAC) (p.P497Y) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation mimics the human p.P491Y mutation associated with HSAN1E (hereditary sensory and autonomic neuropathy type 1E with dementia and hearing loss). (J:310870)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
