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A transition point mutation (A to G) at position 572 resulted in a histidine to arginine missense mutation at codon 191 (H191R). The substitution disrupts the conserved Cys2His2 unit that tetrahedrally coordinates a zinc ion between the anitparallel beta sheet and alpha helix of the zinc finger. DNA binding is putatively disrupted by the interference of the tertiary structure of the N-terminal of zinc finger 3. A full length protein that assembles into higher order complexes is produced from this allele. (J:84569)
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
