Cybanmf333
Chemically induced Allele Detail
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Symbol: |
Cybanmf333 |
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
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Alliance: |
Cybanmf333 page
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Allele Type: |
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Chemically induced (ENU) |
Mutation: |
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Single point mutation
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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)
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Inheritance: |
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Recessive |
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View phenotypes and curated references for all genotypes (concatenated display).
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Original: |
J:82238 JAX Neuroscience Mutagenesis Facility, Heritable mouse mutants from JAX NMF ENU Mutagenesis Program. MGI Direct Data Submission. 2003; |
All: |
10 reference(s) |
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