A 120 bp deletion of nucleotides 573-692 of the gene transcript was created in exon 2. This removes the 40 c-terminal amino acids. A floxed PGK-neomycin cassette was intruduced further downstream. The neomycin cassette was later removed by mating to transgenic Tg(CMV-cre)1Cgn mice. Immunological examination of protein extracts from liver confirmed that a truncated protein was expressed. (J:145513)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count