A loxP site was inserted upstream of exon 2 and an FRT flanked neo cassette, loxP site and mutant exon 2 with a T377C mutation resulting in a C116R substitution were inserted downstream of exon 2 via homologous recombination. Cre mediated recombination removed exon 2 and the neo cassette. The mutation in exon 2 is in the first zinc finger and abrogates binding to RNA in in vitro assays. Expression levels of the mutant protein are similar to wild-type expression levels. (J:261625)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Targeted
Insertion, Single point
--
1
--
1

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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