Exons 2 and 3, encoding the caspase activation and recruitment domain (CARD) were replaced with a lacZ reporter gene and a PGK-neo. Retention of stop codons downstream of the exon 2 splice acceptor site and a consensus Kozak start site for lacZ, as well as the splicing of exon 1 to exon 4 allowed an ORF that included lacZ. Immunoprecipitation and Western blot of mutant spleen cells confirmed production of a protein without the CARD. Beta-galactosidase activity was detected in thymus, spleen and lymph nodes, but negligible in bone marrow of heterozygous mice. (J:95800)
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