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EN
The mutation is a G-to-T transversion in the donor splice site of intron 13 (GT -> TT) (position 92056 in Genbank genomic region NC_000079). It is predicted to result in skipping of the 133-nucleotide exon 13 (of 27 total exons) and to shift the reading frame after codon 411, leading to a premature termination codon following codon 412. (J:132673)
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
