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Single-stranded donor oligodeoxynucleotide-mediated base-pair substitution introduced via CRISPR/Cas9 technology generated a CGC to TGT change resulting in an arginine to cysteine change at amino acid 124 in exon 4. This mutation is found in patients with lattice corneal dystrophy. (J:285437)
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
