Exon 6, which is excised in some isoforms, was deleted and replaced with a neomycin selection cassette. Immunofluorescence analysis, using an antibody raised against all isoforms, of cells isolated from homozygous mutant mice showed an absence of encoded protein in B lymphocytes and low levels of expression in peripheral T cells. Flow cytometric analysis of peripheral T cells confirmed that protein containing the region encoded by exon 6 was absent, while protein containing the region encoded by exon 5 was present at low levels. (J:13163)
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