A PGK-neo-cassette replaced sequences encoding 45 amino acids at the C-terminus, corresponding to exon 4, which includes a von Willebreand factor-A-like domain, and part of the intron sequences. This targeting event resulted in a frameshift in addition to a deletion, abolishing functional Itgb8 protein. Northern blot and RT-PCR analysis verified the lack of functional transcript in homozygous mice. (J:77682)
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