Mice from this strain exhibit head tossing, circling behavior, disorientation in swimming, and deafness. They provide a model for Usher Syndrome, Type 1G.Read More +
Mice homozygous for the Jackson shaker 3 Jackson mutation display head tossing and circling behavior and fail to orient in water to swim. Deafness was found at 3 months of age via auditory brainstem response assessment. This mutant provides a model for Usher Syndrome, Type 1G.
The Jackson shaker 3 Jackson mutation arose spontaneously in an NOD congenic strain bearing Prkdcscid and targeted mutations of class 1 histocompatibility genes. This spontaneous mutation was backcrossed onto C57BL/6J and away from the MHC and Prkdcscid mutations. In 2011 this incipient congenic reached backcross generation N6 and was subsequently maintained by sibling intercrossing heterozygous females with homozygous males. Because of the circling phenotype, homozygous females do not make good mothers.
|Allele Name||Jackson shaker 3 Jackson|
|Gene Symbol and Name||Ush1g, USH1 protein network component sans|
|Strain of Origin||NOD.Cg-Prkdcscid H2-K1tm1Bpe H2-D1tm1Bpe/Sz|
|Molecular Note||A single G nucleotide insertion into a string of 6 guanines within exon 2 causes a frame shift with the first 227 amino acids normal, followed by 9 altered amino acids then a premature stop codon.|