B6;129P3-Ush1c^dfcr-4J/J

Stock number: 010749
Research areas: Mouse/Human Gene Homologs, Sensorineural Research

Description

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

Detailed description

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.

Development

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

Symbol: Ush1c^dfcr-4J
Name: deaf circler 4 Jackson
MGI accession ID: MGI:6359826
Generation method: Spontaneous
Attributes: Not Specified
Marker symbol: Ush1c
Marker name: USH1 protein network component harmonin
Marker synonyms: 2010016F01Rik; AIE-75; DFNB18; DFNB18A; harmonin; NY-CO-37; NY-CO-38; PDZ-45; PDZ73; PDZ-73; PDZ-73/NY-CO-38; PDZD7C; ush1cpst; Usher syndrome 1C
Chromosome: 7
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.