Mice with the head tilt (het, now Nox3het) mutation are characterized by impaired otoconial morphogenesis with normal functionality of the auditory system. Mice carrying the spontaneous mutant Nox3het-2J exhibit head-leaning and circling, which are more dramatic than the original Nox3het mutation. However, auditory-evoked brainstem response testing of three 5-week old homozygotes and heterozygotes showed normal hearing indistinguishable from wild-type controls and the original het homozygotes. Viability and fertility of both sexes of mice are normal, although trampling of pups is common.
The mutation in the het-2J mouse was identified as a G to A substitution at nucleotide position 1282, replacing a glycine residue with an arginine a residue. B10.Q-H2q/SgJ-het2J/+ mice were crossed to C57BL/6J for cryopreservation.
|Allele Name||head tilt 2 Jackson|
|Gene Symbol and Name||Nox3, NADPH oxidase 3|
|Strain of Origin||B10.Q-H2q/SgJ|
|General Note||The head-leaning and circling are more dramatic than the original het mutation. However, ABR (auditory-evoked brainstem response) testing of three 5-week old homozygotes and heterozygotes showed normal hearing indistinquishable from wild-type controls and the original het/het mutants. Viability and fertility of both sexes of mice are normal; although trampling of pups is common(J:56803).|
|Molecular Note||The mutation in the het-2J mouse was identified as a G-to-A substitution at coding nucleotide position 1222 (c.1222G>A), replacing a glycine residue with an arginine at position 408 (p.G408R). The glycine residue is highly conserved and is part of an NADPH binding site.|
When using the head tilt 2 Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #003483 in your Materials and Methods section.