The insertion of a Leu2/neo cassette resulted in the S395R amino acid substitution and a premature termination within ZF3 by inclusion of a translational stop codon at 396. This would cause a truncation of 7.3 kDa with the loss of 52 amino acids, including the KTS insert and ZF4, and would render ZF3 nonfunctional by removing its alpha-helix. Western blot analysis confirmed truncation of two of the four isoforms. Cell fractionation showed that the low level of mutant protein was not a result of retention in the cytoplasm, therefore, posttranscriptional events must account for the fact that only 5% of the protein is mutant. (J:53585)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Nucleotide substitutions
--
1
15
3

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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