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Cybanmf333
Chemically induced Allele Detail
Nomenclature
Symbol: Cybanmf333
Name: cytochrome b-245, alpha polypeptide; neuroscience mutagenesis facility 333
MGI ID: MGI:3526726
Synonyms: p22(phox)-, p22phox-
Gene: Cyba  Location: Chr8:122424776-122432930 bp, - strand  Genetic Position: Chr8, 71.04 cM, cytoband E1
Mutation
origin
Strain of Origin:  A.B6-Tyr+/J
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThis 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 3 assay results
In Structures Affected by this Mutation: 3 anatomical structures
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:  8 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:  7 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
06/30/2020
MGI 6.15
The Jackson Laboratory