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Lysine codon 88 (AAG) in exon 4 was changed to asparagine (AAC) (p.K88N) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation, in the homeodomain (HD) of the encoded peptide, is the equivalent of same human mutation associated with dominant Leber congenital amaurosis 7 (LCA7). (J:343281)
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
