All of exon 2, which contains the translation initiation site, and part of exon 3 were replaced with a neomycin selection cassette in the opposite orientation. Gene inactivation was confirmed by a lack of protein in white- and brown- adipbose tissue, as determined by immunoblotting. (J:140122)
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