Exon 2, which encodes the initiator methionine and the N-terminal signal peptide, was replaced with a neo cassette. Transcript encoding the heart and kidney isoform was undetected in homozygous mutant mice, however truncated transcript similar to the testis-specific isoform was detected. RT-PCR analsysis indicated that the mutant transcript lacked exon 2. The absence of normal protein was confirmed by FACS analysis of erthrocytes obtained from homozygous mutant mice. (J:76578)
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