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EN
ENU induced a T to C transition in the splice donor site within intron 5 (c.515+6T>C) causing a 21 bp insertion with an inframe nonsense codon (E173Stop). The absence of wild-type transcript was confirmed by RT-PCR. The predicted protein is truncated after 172 of 561 amino acids prior to the B9 domain. (J:154075)
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
