These mice, carrying an UNU-induced mutation of the Myo7a gene, are deaf and exhibit neurological impairment.
The Jackson Laboratory cannot guarantee that cryorecovery of strains from the discontinued NIH-funded Neuroscience Mutagenesis Facility (NMF) will be successful or that the anticipated phenotype or genotype will be obtained. The cryorecovery fee for this effort will not be refunded or prorated if the recovery is unsuccessful or is in any way unsatisfactory. Genotyping will be the responsibility of the Purchaser.Read More +
The mutants were identified through head tilt, body leaning and bi-directional circling behavior at wean (average onset at 3.5 +/- 0.6 weeks of age; n=31); they also show head tossing behavior. ABR testing showed the mutants to be deaf at all frequencies (8, 16, 32KHz) tested. Because of phenotypic and genotypic similarities to mutants of Myo7a, complementation tests were performed with B6.Cg-Myo7ash1-8J/J (Stock No. 003184); the results of two heterozygous by homozygous matings (5 affected in a total of 24 progeny) suggest that nmf371 represents an allele of Myo7a. Serial sections of the ears of two mutants (160 days of age) revealed a virtual absence of organ of corti,spiral ganglion cells, hair cells or normal otoconia; whole ear exam also showed defective otoconia. Standard pathology work-up revealed no further abnormalities.
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||shaker 1, 11 Jackson|
|Allele Type||Chemically induced (ENU) (Not Specified)|
|Allele Synonym(s)||Myo7anmf371; neuroscience mutagenesis facility, 371; NMF371|
|Gene Symbol and Name||Myo7a, myosin VIIA|
|Strain of Origin||C57BL/6J|
|Molecular Note||Failure to complement with the shaker 1, 8 Jackson mutation proved that this mutation is an allele of Myo7a.|