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Arginine codon 250 (CGA) in exon 9 was changed to a stop codon (TGA) (p.R250*) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the human p.R245* mutation associated with Usher syndrome type I (USH1). Immunohistochemistry experiments indicate absence of protein expression in retinal and cochlear tissues. (J:342718)
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
