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This mutation was isolated at The Oak Ridge National Laboratory. A single nucleotide substitution was found in genomic DNA. A G-to-T change at the exon 5/intron 5 boundary results the in-frame exon skipping of the last 33 bp of exon 5 in the encoded mRNA. (J:163586)
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
