A puro cassette replaced exons 15 and 16. Western blot analysis confirmed the absence of protein expression in the liver, kidney, lung, spleen, testis and brain. (J:196782)
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