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Exon 14 was replaced with a modified one in which nucleotide substitution (T to G) resulted in the amino acid substitution of cysteine with glycine at position 1509 (p.C1509G). This mutation was identified in human patients with autosomal dominant hearing loss. A second silent nucleotide substitution (C to A) at codon for amino acid 1510 was generated to assist in genotypying. An FRT site flanked neomycin resistance gene cassette was inserted into intron 13 and was removed through subsequent flp-mediated recombination. (J:160851)
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
