B6 x B10.D1-H2^q/SgJ-Nox3^het-2J/J

Stock number: 003483
Product name: head tilt 2 Jackson
Research areas: Sensorineural Research

Description

Mice carrying the spontaneous mutant Nox3^het-2J exhibit head-leaning and circling; they may be useful in studies relating to the formation of otoconia.

Detailed description

Mice with the head tilt (het, now Nox3^het) mutation are characterized by impaired otoconial morphogenesis with normal functionality of the auditory system. Mice carrying the spontaneous mutant Nox3^het-2J exhibit head-leaning and circling, which are more dramatic than the original Nox3^het 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.

Development

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-H2^q/SgJ-het^2J/+ mice were crossed to C57BL/6J for cryopreservation.

Allele

Symbol: Nox3^het-2J
Name: head tilt 2 Jackson
MGI accession ID: MGI:1857794
Generation method: Spontaneous
Marker symbol: Nox3
Marker name: NADPH oxidase 3
Chromosome: 17
Strain of origin: B10.Q-H2^q/SgJ
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.
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).

Allele

MGI accession ID: MGI:95894
Marker symbol: H2
Marker name: histocompatibility-2, MHC
Chromosome: 17