These mice carry a recessive spontaneous mutation that is characterized by impaired hearing and vestibular dysfunction.
Kenneth Johnson, JAX
Kenneth Johnson, JAX
Kenneth Johnson, JAX
Mice homozygous for this spontaneous recessive mutation of the Clic5 gene are profoundly deaf by 49 days of age, as assessed by ABR, and exhibit vestibular dysfunction with circling behavior, head tossing, and swimming in circles at the surface of the water. These abnormalities do not result from defects of the utricles or saccules, which appear normal in whole mount images. The jitterbug 2 Jackson mutation is a 6,908 bp intragenic deletion that encompasses exon 3 but leaves the sequence in-frame so deletes 42 amino acids. This allele appears to have an earlier onset of deafness than that caused by the Clic5jb allele.
The jitterbug 2 Jackson mutation arose spontaneously on the C57BL/6J background at The Jackson Laboratory in 2005, was backcrossed once to C57BL/6J and was maintained by sibling intercrossing until sperm was cryopreserved from homozygous males.
|Allele Name||jitterbug 2 Jackson|
|Allele Type||Spontaneous (Null/Knockout)|
|Gene Symbol and Name||Clic5, chloride intracellular channel 5|
|Strain of Origin||C57BL/6J|
|Molecular Note||This spontaneous mutation is a 6908 bp deletion from Chr17:44240906 - Chr17:44247814 (GRCm38), which includes all of exon 3 and flanking intron regions, removing 42 amino acids but not changing the reading frame.|
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