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This mouse line was generated by site-directed CRISPR-Cas9 mutagenesis in C57BL/6NCrl mice causing a I1553T mutation (uniprot Q9ESF1-3). This mimics the mutation that gives rise to a deafness related I1573T mutation in the isoform e peptide coded for by the human ortholog. Additional silent mutations were introduced. The mutated exon38 now reads:(5')gtcctttgacattgaggcctccttccccatggagtccatgttgacagtggccgtgtacgactgggatctggtgggcactgatgaTctcaCcggCgaaaccaagattgacctggaaaaccgcttctacagcaagcaCcgcgcAacAtgcggcatcgcacagacctattccat(3'). (J:343835)
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
