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Arginine codon 130 (AGA) in exon 5 was changed to serine (AGT) (c.390A>T, p.R130S) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the same human mutation (c.390A>C) associated with bilateral sensorineural hearing loss. An additional silent mutation (c.387A>G, p.S129S) was introduced to create a diagnostic XhoI restriction site, replacing the wildtype Hpy188III site. (J:341102)
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
