A W196R mutation was introduced into exon 7 by homolgous recombination. A loxP flanked neomycin resistance gene containing the SV40 polyA sequence was inserted into intron 5. Western blot demonstrated that mutant cells express half of the level of protein as that of wild-type cells. Cre-mediated recombination restores the expression of the mutant transcript containing the point mutation, and expression of the mutant protein. (J:103418)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129X1/SvJ
Targeted
Insertion
--
1
4
8

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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