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A point mutation (A to G) in exon 19 results in the amino acid substitution of arginine for histidine at position 723 (H723R). This mutation is found in Asia in human populations with hereditary hearing loss. Cre-mediated recombination removed the floxed neomycin resistance cassette inserted upstream of the modified exon 19. (J:203206, J:284889)
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
