A PGK-neo gene replaced part of exon 1, exons 2 to 6, and part of exon 7 via homologous recombination, removing 83% of the coding sequence including the proteolytic catalytic site. Western blot analysis confirmed absence of protein in MEFs (J:94227)
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