Exon 1 and flanking intronic sequences were deleted and replaced with a floxed PGK-neo cassette via homologous recombination. Transient expression of cre recombinase in correctly targeted cells removed the selection cassette leaving behind a single loxP site in place of exon 1. Gene expression was absent in the heart, brain, and skeletal muscle of homozygous mutant animals as determined by Northern blot analysis. However, an aberrant transcript was detected in placentas from homozygous mutant embryos. RT-PCR analysis revealed the mutant transcript results from alternative splicing of intron 2 to exon 3 and does not translate a functional protein product. (J:69978)
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