A.B6 Tyr⁺-Cyba^nmf333/J

Stock number: 005445
Strain synonyms: NMF333
Research areas: Dermatology Research, Immunology, Inflammation and Autoimmunity Research, Mouse/Human Gene Homologs, Neurobiology Research, Sensorineural Research

Description

These mice carry an ENU-induced mutation that causes vestibular defects due to a lack of otoconia, and deficient neutrophil responses.

Detailed description

These mutants were detected through routine inspections for overt abnormal behavior; head- and body tilt can be observed at approximately 4 weeks of age (average onset 4.6 +/- 0.6 weeks; n=15). Standard pathology work-up and a whole-mount ear exam on one mutant (56 days of age) revealed no abnormalities. Male or female mutants have been produced and the colony is maintained through regular breeding.

Development

This phenotypic deviant was generated by ethylnitrosourea (ENU) mutagenesis in A.B6-Tyr⁺/J males (Stock No. 002565), in the Neuroscience Mutagenesis facility at The Jackson Laboratory.

Allele

Symbol: Cyba^nmf333
Name: neuroscience mutagenesis facility 333
MGI accession ID: MGI:3526726
Generation method: Chemically induced (ENU)
Synonyms: p22(phox)-; p22phox^-
Marker symbol: Cyba
Marker name: cytochrome b-245, alpha polypeptide
Marker synonyms: b558; CGD4; cytochrome beta-558; p22 phox; p22-PHOX; Phox
Chromosome: 8
Strain of origin: A.B6-Tyr⁺/J
Molecular note: 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.

Allele

Symbol: Tyr⁺
Name: wild type
MGI accession ID: MGI:2432472
Generation method: Not Applicable
Marker symbol: Tyr
Marker name: tyrosinase
Marker synonyms: ATN; CMM8; Oca1; OCA1A; OCAIA; SHEP3; skc35
Chromosome: 7
Strain of origin: Not Applicable