These mice carry an ENU-induced mutation of the Kcnq1 gene and exhibit severe malformations in the cochlea and vestibular area of the ear.
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.
These mutants show body tremor, head tossing behavior, bi-directional circling, and intermittently move backwards; occasional ataxia, i.e. lifting of both hind limbs simultaneously and slight leaning to the side can also be observed. Results of an auditory brainstem recording (n=1) suggest they are also deaf, since no response was obtained at every frequency tested (click, 8, 16, 32kHz). The on-set of the overt phenotype is at 3.7 weeks (+/- 0.6; n=53) of age; mutants breed well and a colony can be maintained through regular breeding. Because of the general map position and this characteristic phenotype, complementation analysis with a vertigo mutant, Kcnq1vtg-2J(Jax#4407), was performed. A homozygous (Kcnq1vtg-2J) by heterozygous (nmf455) mating resulted in 11 mutants in a total of 26 progeny, confirming that nmf455 represents an allele of Kcnq1. Standard pathology work-up on two mutants (123 days of age) showed no abnormalities. However, serial sections of the ears revealed severe malformations in the cochlea and vestibular area, characterized by collapse of both the cochlear ducts and the endolymphatic part of the vestibular system (scala media; to view a section of control tissue, see Zheng et al., 2005). In addition, whole ear exam revealed abnormal otoconia.
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||vertigo 3 Jackson|
|Allele Type||Chemically induced (ENU)|
|Allele Synonym(s)||Kcnq1nmf455; neuroscience mutagenesis facility, 455; NMF455|
|Gene Symbol and Name||Kcnq1, potassium voltage-gated channel, subfamily Q, member 1|
|Strain of Origin||C57BL/6J|
|Molecular Note||This mutation, identified in an ENU mutagenesis screen, was shown by complementation analysis to be allelic with the vertigo 2 Jackson mutation.|