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This spontaneous C-to-G mutation, specific to the C57BL/6J strain, in the splice acceptor region of intron 4 (changing it from CAG to GAG) results in the exclusion of exon 5 from the mature transcript. The resulting protein products lacks the third and fourth WD40 repeats. (J:282417)
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
