A pgk-neo cassette was inserted into exon 1 resulting in a frameshift at amino acid 14 and a premature stop codon 6 amino acids downstream of the frameshift. RT-PCR confirmed the absence of RNA expression in the brain, liver, and kidney of homozygous mice. Western blot and immunohistochemical analysis confirmed the absence of protein expression in homozygous mice. (J:131019, J:145858)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count