Homozygotes display impaired balance by wean age. They lean to one side and have difficulty maintaining an upright position, but are fertile and premature death has not been noted. This is a less severe phenotype than that of targeted null mice.
This mutation arose spontaneously in the C57BL/6J foundation stock at The Jackson Laboratory in early 2002. This mutation was transmitted by a recessive carrier from the C57BL/6J foundation stock into the B6.VLepob/J strain and homozygous mutants were detected in that colony in the summer of 2002. This mutant subline was backcrossed to C57BL/6J to remove the Lepob mutation and sperm was cryopreserved from homozygous males of this mutant subline when they were at generation N5. The possible trace contributions to the genome from the early stock that gave rise to the V/LeJ strain should be the only difference between this strain and Stock No. 005544, which has a pure C57BL/6J coisogenic background.
|Allele Name||mutation 1, Jackson|
|Gene Symbol and Name||Robo3, roundabout guidance receptor 3|
|Strain of Origin||C57BL/6J|
|Molecular Note||This spontaneous mutation has a single A-to-G transition that results in a change in amino acid 130 from histidine to arginine (p.H130R).|