The DNA binding domain of the E47 isoform was disrupted by the introduction of two arginine to glycine missense mutations generated by site directed mutagenesis. While this mutation putatively disrupts DNA binding it was not expected to affect homodimerization of the E47 isoform. Semiquantitative RT-PCR analysis showed a 40% reduction of transcript produced from the targeted locus. The mutation was shown to affect splicing as the E47/E12 transcript ratio was determined to be increased by approximately 80% in homozygous mutant mice. (J:47671)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129/Sv
Targeted
Nucleotide substitutions
--
1
5
4

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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