B6.129S1-Nox3^het-3J/GrsrJ

Stock number: 006228
Product name: head tilt 3 Jackson
Research areas: Sensorineural Research

Description

Homozygous mice of this strain harbor the ENU induced Nox3^het-3J mutation, are characterized by head tilting, and lack otoconia in the utricle and the saccule of the ear.

Detailed description

Homozygotes completely lack otoconia, both in the utricle and the saccule, as early as embryonic day 14 and this persists in the adult. However, the rest of the inner ear appears morphologically normal and hearing is normal. Otoconia appear to be normal in heterozygotes. Homozygotes can be identified by a significant sideways tilting of the head. When dropped 30cm to a soft surface homozygotes fail to land on their feet. They also fail to orient and swim in water, but instead rotate underwater and require rescue.

Development

The head tilt 3 Jackson mutation was generated in an EMS mutagenesis screen. 129S1/SvImJ-derived CJ7 ES cells were treated with ethylmethanesulphonate and injected into C57BL/6J blastocysts to generate chimeras which were bred with C57BL/6J and the head tilt 3 Jackson mutation was identified in subsequent screening progeny. Backcrossing to C57BL/6J continued, resulting in this congenic which reached generation N15 in 2010.

Allele

Symbol: Nox3^het-3J
Name: head tilt 3 Jackson
MGI accession ID: MGI:2179106
Generation method: Chemically induced (other)
Attributes: Null/Knockout
Marker symbol: Nox3
Marker name: NADPH oxidase 3
Chromosome: 17
Strain of origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺
Molecular note: A G to A transition at the -1 position of the spice acceptor site at the intron 1 - exon 2 junction is predicted to result in the abolition of this acceptor site. As a result, PCR suggests two splice variants in the homozygous mutant: one using a cryptic acceptor site in intron 1 and then the canonical donor site of exon 2 (resulting in novel amino-acids and a premature stop codon) and one skipping exon 2 (with the coding region remaining in-frame). No complementation was seen among offspring in crosses between heterozygotes of this allele and homozygotes of head tilt or head tilt 2 Jackson.