Homozygous mice of this strain harbor the ENU induced Nox3het-3J mutation, are characterized by head tilting, and lack otoconia in the utricle and the saccule of the ear.Read More +
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.
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 Name||head tilt 3 Jackson|
|Allele Type||Chemically induced (other) (Null/Knockout)|
|Gene Symbol and Name||Nox3, NADPH oxidase 3|
|Gene Synonym(s)||GP91-3; MOX-2; head-tilt; het; het; neuroscience mutagenesis facility, 250; nmf250; nmf250|
|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.|
|Please inquire about possible genotypes.|
The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided,
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