These mutants were detected through routine inspections for overt abnormal behavior and the onset of head- and body tilt has been determined to be at 4 weeks of age (+/- 0.3 weeks); occasional circling behavior has also been observed. Results of Auditory brainstem recordings (n=2) were normal. Complementation analysis, i.e. matings between heterozygous nmf250 (female) and homozygous Nox3 mice (male, Stock Number 002557, B6Ei.GL-Nox3het/J) resulted in 5 mutants in a total of 7 progeny, demonstrating that nmf250 represents an allele of Nox3. Standard pathology work-up on two mutants (43 or 112 days of age) revealed no abnormalities. Serial sections of the ears of the older mouse showed a lack of otoconia in the ear, which was confirmed by examination of ear whole mounts of two other mutants. No other abnormalities were observed. Male or female mutants have been produced and the colony can usually be maintained through homozygous matings.
This phenotypic deviant was generated by ethylnitrosourea (ENU) mutagenesis in C57BL/6J males (Stock No. 000664), in the Neuroscience Mutagenesis facility at The Jackson Laboratory. Mutagenized males were crossed to C57BL/6J females; G3 descendants of the mutagenized males were selected for neurological impairment.
|Allele Name||head tilt 4 Jackson|
|Allele Type||Chemically induced (ENU)|
|Allele Synonym(s)||neuroscience mutagenesis facility, 250; nmf250; Nox3nmf250|
|Gene Symbol and Name||Nox3, NADPH oxidase 3|
|Strain of Origin||C57BL/6J|
|Molecular Note||This phenotypic mutation, discovered in an ENU mutagenesis screen, was shown to be an allele of Nox3 by its failure to complement the original het mutation. A T-to-A transversion has been identified in the splice donor consensus sequence at the 3' end of exon 10.|
When using the head tilt 4 Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #005014 in your Materials and Methods section.