Exon 2 was replaced with one in which a T to C transition results in the amino acid substitution of arginine for tryptophan at position 4 (W4R), mimicking a mutation found in some myocardiopathy patients. A floxed neo cassette inserted downstream of the modified exon 2 was removed by cre-mediated recombination. Reduced protein expression was confirmed by western blot analysis. (J:170878)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
Insertion, Single point
--
1
4
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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