Germline, cre mediated recombination was used to remove the beta-geo cassette leaving exons 10 through 13 floxed. Subsequent molecular analysis revealed that two adenine-to-guanine point mutations were inadvertently introduced into the tower domain during the gene targeting process. These resulted in the predicted amino acid changes E413G and M448V in the encoded protein. These residues have been implicated in protein-protein interactions with other regulatory proteins. Microarray and qRT-PCR analysis demonstrated that mRNA levels were decreased by ~50% in E18.5 homozygous hearts, indicating a hypomorphic allele. (J:144527, J:270116)
Basic Information
Insertion, Nucleotide substitutions
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count