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EN
The molecular lesion responsible for the phenotype is a point mutation resulting in a T-to-A transversion at nucleotide 80 (ENSMUST00000025992.6, 265-amino-acid isoform), leading to an amino acid exchange from isoleucine to asparagine at position 27, thereby affecting the functional BTB domain of the protein. The mutation presumably causes a loss of function via a dominant-negative mechanism. (J:250423)
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
