Similar to other Ush1c mutants, these homozygotes are deaf at an early age, display circling and head shaking behavior, and provide a model for autosomal recessive nonsyndromic deafness 18A and Usher syndrome type 1C
Homozygotes display circling and side-to-side head shaking behavior and complete deafness at one month of age. A heterozygote was also found to have slightly elevated ABR thresholds at 32kHz. Homozygotes fail to orient in water to swim and instead roll underwater.
The deaf circler 4 Jackson remutation arose spontaneously on the 129P3/J inbred background at The Jackson Laboratory in 2006 and was maintained coisogenic on this background by sibling intercrossing and in 2011 sperm was cryopreserved from homozygous males at generation +F12. The test cryo-recovery was performed using C57BL/6J due to the reduced availability of 129P3/J females. Thus, standard cryo-recovery is scheduled to use C57BL/6J. To retain coisogenicity, cryo-recovery would need to use 129P3/J oocytes, but this is only possible with an increased fee. Please inquire.
|Allele Name||deaf circler 4 Jackson|
|Allele Type||Spontaneous (Not Specified)|
|Gene Symbol and Name||Ush1c, USH1 protein network component harmonin|
|Strain of Origin||129P3/J|
|Molecular Note||This spontaneous mutation was proven to be an allele of Ush1c by failed complementation with the dfcr allele.|
Because of the risk that female homozygotes may trample their pups it is best to maintain this strain with heterozygous female breeders.
When using the B6;129P3-Ush1cdfcr-4J/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #010749 in your Materials and Methods section.