This mutation creates an alternative splice acceptor site 44 base pairs inside the 5'-end of exon 12, which codes for the entire zinc finger domain, causing a frameshift with a premature stop codon. As a result, the mutant protein contains the first 1381 amino acids, but lacks all of its zinc fingers and the ability to bind DNA at specific sequences. (J:277855)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Targeted
Nucleotide substitutions
--
1
--
2

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

References Literature

Title
PMID
Journal
Year
IF
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