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Using an sgRNA (targeting AAAGGACAGATTCTTTCTGA) and an ssODN template with CRISPR/Cas9 technology, threnonine codon 721 (ACG) in exon 15 was changed to methionine (ATG) (c.2162C>T, p.T721M); also, two silent mutations were introduced to create a diagnostic HinfI restriction site. This mutation mimics a human mutation associated with sensorineural hearing impairment (SNHI) but doesn't cause deafness in mouse. (J:313809)
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
