Exons 1 through 6 were replaced with a neomycin selection cassette. Normal transcript was undetected by Northern blot analysis of homozygous mutant skeletal muscle and adipose tissue. While truncated transcript was identified in adipose tissue, protein was undetected by Western blot analysis using antibodies directed toward the N- and C-terminals. (J:86301)
Basic Information
Disruption caused by insertion of vector
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count