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An insertion/deletion mutation was created in the second coding exon of the gene to induce a premature stop codon, limiting full translation of the generated transcript. The translated protein is truncated at the N-terminus by 76 amino acids, lacking the majority of the BTB (protein-protein interaction) domain, with the remainder of the protein intact. This has been confirmed by DNA and RNA sequencing as well as Western blot analysis of protein products. (J:293133)
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
