400 bp of the gene including part of exon 2, exon 3, and the translation initiation codon was replaced with a hygromycin resistance cassette via homologous recombination. Northern blot analysis detected mutant transcripts in cardiac and skeletal muscle of homozygous mutant animals, but Western blot analysis of the same tissues demonstrated the absence of protein product. (J:76886)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count