A neo cassette in inverse orientation was inserted in exon 3 via homologous recombination. This insertion created a stop at codon 62. RT-PCR and immunoblot analysis confirmed the absence of transcript and protein expression in homozygous embryos. (J:146397)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count