Cyba^nmf333

This mutation was identified in an ENU mutagenesis screen. Sequence analysis of the Cyba gene of nmf333 mice revealed a T to C point mutation in exon 5, resulting in a tyrosine to histidine substitution at amino acid position 121 of the encoded protein. The mutated tyrosine is located within a predicted transmembrane domain of the protein and is likely to have profound structural consequences. The identified point mutation did not diminish mRNA expression; RT-PCR analysis revealed that the mutant transcript was present at normal levels in the spleens of mutant mice. However, Western blot experiments demonstrated that mature protein was absent from the neutrophil granulocytes of homozygous nmf333 mice while expression was readily detected in the neutrophils of control littermates. (J:132359)