Exon 2, containing the entire coding region, was replaced with a neomycin resistance gene cassette, creating a null allele. RT-PCR and western blot experiments confirmed the lack of expression from this allele in liver and MEFs. (J:238373)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count