Mice that are homozygous for this Gpr98 (G protein-coupled receptor 98) targeted mutation are sensitive to audiogenic seizures, exhibit abnormal cochlear hair cell stereociliary bundle development, become profoundly deaf by 3 weeks of age and have age-related vision loss. This mutant mouse strain may be useful in studies of Usher syndrome type IIC, cochlear development, deafness and blindness.
Daniel R. McMillan, UT Southwestern Medical Center
Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical abnormalities. A mutant gene product (protein) is detected by Western blot analysis of embryos. High-intensity sound induces audiogenic seizures that often results in death. Cochlear hair cell stereociliary bundles are do not mature properly, lack ankle links and are disorganized. Hair cells and pillar cells in the basal half of the cochlea degenerate and are lost by 2 months of age. Homozygotes become profoundly deaf by 3 weeks of age. Electroretinographic analysis reveals abnormal light-adapted cone-only responses. Mutant mice exhibit abnormal retinal photoreceptor cells ultrastructure and age-related vision loss. This mutant mouse strain may be useful in studies of Usher syndrome type IIC, cochlear development, deafness and blindness.
A targeting vector containing neomycin resistance and herpes simplex virus thymidine kinase genes and a HA tag, a 6xHis affinity purification tag and a translational stop codon was used to disrupt 101 bp of exon 82. The construct was electroporated into 129S1/Sv-Oca2+ Tyr+ Kitl+ derived CJ7 embryonic stem (ES) cells. Correctly targeted ES cells were injected into recipient blastocysts. The resulting chimeric animals were crossed to C57BL/6J mice, and then backcrossed to C57BL/6J for 11 generations.
|Allele Name||targeted mutation 1, Perrin C White|
|Allele Type||Targeted (Null/Knockout)|
|Allele Synonym(s)||VLGR/delTM7; Vlgr1del7TM|
|Gene Symbol and Name||Adgrv1, adhesion G protein-coupled receptor V1|
|Strain of Origin||129S1/Sv-Oca2+ Tyr+ Kitl+|
|Molecular Note||A 691 bp segment including intron 81 and part of exon 82 was replaced with an HA tag, a 6xHis affinity purification tag, and a translation stop codon via homologous recombination. Western blot analysis confirmed expression of a single mutant protein.|
|Mutations Made By|| |
Daniel McMillan, UT Southwestern Medical Center
When maintaining a live colony, these mice can be bred as homozygotes.
When using the B6.129S1-Adgrv1tm1Pwh/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #009379 in your Materials and Methods section.