A 5' region of exon 2, which is the only coding exon, was replaced with a neomycin selection cassette. No mRNA was detected by Northern blot analysis of heart or lung tissue obtained from homozygous mutant mice and the absence of protein was verified by Western blot analysis of liver tissue. (J:46429, J:83400)
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