Exons 5-7, which encode amino acids 155-251 and make up the middle of the N-terminal kinase domain, were replaced with a neo. If readthrough occurred, splicing from exons 4-8 would result in a frameshift mutation. Immunoblotting of mutant MEFs confirmed the lack of protein. (J:97140)
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