A neo cassette replaced exons 14-17. Transcripts were expected to utilize the neo polyA, thereby lacking codons 703-1237, which encode the transmembrane domains. Northern blot using probes of sequences 3' to the neo showed that wild-type mRNAs were ablated in mutants, whereas probes of sequences 5' to the neo indicated presence of transcripts consistent in size with two splice variants. An immunofluorescence assay using an antibody that recognizes the C terminus confirmed protein disruption. (J:91617)
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