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Isoleucine codon 293 (ATT), straddling exons 8 and 9, was changed to valine (GTT) (NM_172493.2: c.877A>G, NP_766081.1:p.I293V) using an sgRNA and ssODN template with CRISPR/Cas9 technology. The mutation mimics the human NM_006729.4:c.868A>G, NP_006720.1:p.I290V missense and potential splice site variant associated with nonsyndromic hearing loss (NSHL). (J:332881)
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
