A genomic rearrangement of the gene occurred, but the expected deletion of exons 1-5 did not occur by homologous recombination. An aberrant 4.5 kb mRNA was expressed from this allele, and western blot experiments on proteins derived from macrophages of homozygous mice confirmed that no detectable protein was made. (J:25755)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count