This strain is homozygous for the retinal degeneration mutation Pde6brd1; it may also carry the age related hearing loss mutation, Cdh23ahl, which is linked to rcw within ~20 - 30 cM on Chromosome 10.
Visibly, Grm1rcw/Grm1rcw mice are identifiable by 2.5 - 3 weeks of age. Their constant wobbly gait frequently throws them off balance, but only briefly, as they show immediate and normal righting response. When walking, they often brace for balance with their fore- and hindfeet extended forward or sideways. Their heads lurch mildly and the mutants often sit on their haunches when motion falters. Their forefeet show normal grip strength when the mutant mice are pulled gently backwards over a cage cover. When picked up by the tail, they may clasp their hindfeet. However, they show sufficient hindlimb strength to prevent their falling when placed on an edge. Mutants live through adulthood, and mice of both sexes breed. Grm1rcw has been mapped between the flanking markers D10Mit49, at map position 6.3 Mb and D10Mit80, at map position 11.4 Mb.
rcw arose in the 129S1/SvImJ production colony at The Jackson Laboratory in 1998. An affected female was crossed to a C3HeB/FeJ male, and the stock was then maintained by sib matings for seven generations. It was then decided to transfer rcw onto C3FeLe.B6-a/a so that females of an agouti C3H subline could serve as ovarian transplant hosts if ovarian transplantation should prove necessary to maintain the mutation on an inbred background. The resulting strain was named C3FeLe.Cg a-rcw/J. This strain is no longer available. The homozygous mutant phenotype did not diminish or show reduced viability at N5. In 2005 embryos were generated for cryopreservation using C3HeB/FeJ agouti females and congenic C3FeLe.B6-a/a homozygous mutant males and were assigned stock#5494 and named C3.Cg-rcw/J. This thawed strain will be segregating for a and A.
|Allele Name||recoil wobbler|
|Gene Symbol and Name||Grm1, glutamate receptor, metabotropic 1|
|Strain of Origin||129S1/SvImJ|
|Molecular Note||A spontaneous mutation that arose at The Jackson Laboratory. A c.876G>T transversion causing an glutamic to aspartic acid (p.E292D) amino acid change has been identified.|