Cyba^nmf333
Chemically induced Allele Detail

Summary

• Symbol: Cyba^nmf333
• Name: cytochrome b-245, alpha polypeptide; neuroscience mutagenesis facility 333
• MGI ID: MGI:3526726
• Synonyms: p22(phox)-, p22phox^-
• Gene: Cyba Location: Chr8:123151515-123159669 bp, - strand Genetic Position: Chr8, 71.04 cM, cytoband E1
• Alliance: Cyba^nmf333 page

Mutation origin

• Strain of Origin: A.B6-Tyr⁺/J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: 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)
• Inheritance: Recessive

Expression

In Mice Carrying this Mutation:	52021 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Cyba Mutation: 18 strains or lines available

References

• Original: J:82238 JAX Neuroscience Mutagenesis Facility, Heritable mouse mutants from JAX NMF ENU Mutagenesis Program. MGI Direct Data Submission. 2003
• All: 11 reference(s)