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A C to T transition 2 bp after position 301, the splice donor site at the end of exon 3, caused a splicing defect resulting in the insertion of 85 bp of intronic sequence into the transcript and introduces a stop codon that generates a severely truncated protein. (J:100119)
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
