Mutation of the Cyba gene encoding p22^phox causes vestibular and immune defects in mice
J. Clin. Invest. Yoko Nakano, et al. 118:1176 doi:10.1172/JCI33835 [Go to this article.]

Figure 1
Missense mutation in the Cyba gene of the nmf333 mouse strain. (A) The p22phox-encoding Cyba gene is located near the distal telomere of mouse chromosome 8 (top ideogram). Cyba contains 6 exons (numbered black boxes). A deoxythymidine nucleotide (T) in exon 5 of WT Cyba (upper chromatogram) is replaced by a deoxycytosine (C) in the nmf333 mutant strain, as indicated by an arrow in the lower chromatogram. The point mutation changed the 121st amino acid of p22phox from tyrosine (Tyr) to histidine (His), as shown in the translation lines. (B) The tyrosine to histidine amino acid substitution (Y121H) is localized to the second predicted transmembrane helix of p22phox. (C) Genotyping for the nmf333 mutation with PCR amplification and subsequent BslI digestion of a fragment of the Cyba gene. Lanes show a 100-bp ladder and the genotyping results using DNA samples from WT, heterozygous nmf333 (nmf333/+), and homozygous nmf333 (nmf333/nmf333) mice. Fragment sizes are given in bp.