Cyba<nmf333> Chemically induced Allele Detail MGI Mouse (MGI:3526726)

Cyba^nmf333
Chemically induced Allele Detail

Nomenclature

Symbol:	Cyba^nmf333
Name:	cytochrome b-245, alpha polypeptide; neuroscience mutagenesis facility 333
MGI ID:	MGI:3526726
Gene:	Cyba Location: Chr8:124948679-124956808 bp, - strand Genetic Position: Chr8, 67.0 cM, cytoband E1

Mutation
origin

Strain of Origin:

A.B6-Tyr⁺/J

Mutation
description

Allele Type:	Chemically induced (ENU)
Mutation:	Single point mutation
	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

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)

Carrying this Mutation:	Mouse Strains: 2 strains available Cell Lines: 0 lines available
Carrying any Cyba Mutation:	3 strains or lines available

Expression

In Mice Carrying this Mutation:

3 assay results

Phenotype
summary

Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

Key:

hm	homozygous	ht	heterozygous
cn	conditional genotype	cx	complex: > 1 genome feature
tg	involves transgenes	ot	other: hemizygous, indeterminate,...
N	normal phenotype		expected model not found

Affected Systems	Genotypes:	hm1
behavior/neurological		√
impaired balance		√
head tilt		√
impaired swimming		√
		hm1
hearing/vestibular/ear		√
hearing/vestibular/ear phenotype		N
head tilt		√
absent otoliths		√
absent linear vestibular evoked potential		√
		hm1
immune system		√
abnormal neutrophil physiology		√
increased inflammatory response		√
lung inflammation		√
increased susceptibility to bacterial infection		√
sepsis		√
		hm1
respiratory system		√
lung inflammation		√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype

Allelic Composition

Genetic Background

hm1

Cyba^nmf333/Cyba^nmf333

A.B6-Tyr⁺/J

behavior/neurologicalimpaired balance (J:132359)

mice exhibit a body tilt

head tilt (J:132359, J:82238)

head- and body tilt can be observed at approximately 4 weeks of age with average onset 4.6 +/- 0.6 weeks (J:82238)

impaired swimming (J:132359)

mutant mice are unable to remain at the surface of the water in a forced swim test whereas control mice are good swimmers

hearing/vestibular/earhearing/vestibular/ear phenotype (J:132359)

hearing is unaffected in mutant mice as assessed by ABR analysis

head tilt (J:132359, J:82238)

head- and body tilt can be observed at approximately 4 weeks of age with average onset 4.6 +/- 0.6 weeks (J:82238)

absent otoliths (J:132359)

otoconia are absent in the utricle and saccule of newborn mutant mice

absent linear vestibular evoked potential (J:132359)

encephalographs indicate that mutant mice are nonresponsive even at maximum accelerations

immune systemabnormal neutrophil physiology (J:132359)

mutant neutrophils do not produce superoxide in either the presence or absence of PMA, in contrast to controls

Nox activity is completely absent from mutant neutrophils

increased inflammatory response (J:132359)

at 3.5 days post-infection with 10⁴ CFU of Burkholderia cepacia, spleen derived from mutant mice contain necrotic areas and increased numbers of polymorphonuclear cells within the marginal zone and the red pulp

lung inflammation (J:132359)

at 3.5 days post-infection with 10⁴ CFU of Burkholderia cepacia, mutant lung tissue is damaged by necrotizing pneumonia and alveolar spaces are filled with granulocytes, macrophages and cell debris

increased susceptibility to bacterial infection (J:132359)

mutant animals innoculated intratrachially with 10⁶ CFU of Burkholderia cepacia succumb to the infection within 3 days of infection with animals dying within 24 hours of the first signs of respiratory distress

defective bacterial clearance in mutant mice is shown in lung homogenates; at 3.5 days post-infection with 10⁴ CFU of Burkholderia cepacia, mutant lung homogenates contain more than 10⁸ CFU of bacteria, while lung homogenates from control littermates do not contain any bacteria

sepsis (J:132359)

at 3.5 days post-infection with 10⁴ CFU of Burkholderia cepacia, mutant spleen contains large numbers of Burkholderia cepacia, whereas controls do not

respiratory systemlung inflammation (J:132359)

References

Original:	J:82238 JAX Neuroscience Mutagenesis Facility URL: http://www.jax.org/nmf, "Heritable mouse mutants from JAX NMF ENU Mutagenesis Program" MGI Direct Data Submission 2003;():
All:	2 reference(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 11/20/2009 MGI_4.31 Web browser compatibility