Using an sgRNA (targeting ATTTTTTACGGCAATGTCGA) and an ssODN template with CRISPR/Cas9 technology, cysteine codon 565 (TGT) in exon 15 was changed to tyrosine (TAT) (c.1694G>A, p.C565Y); also, two silent mutations were introduced to create a diagnostic AclI restriction site. This mutation mimics a human mutation associated with sensorineural hearing impairment (SNHI) but doesn't cause deafness in mouse. (J:321807)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Endonuclease-mediated
Single point
--
1
9
1

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

References Literature

Title
PMID
Journal
Year
IF
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