Mice homozygous for the recessive Fgfr3m1J allele have skeletal deformities that result in kyphosis, scoliosis, and a bent tail, which is often found to exit the pelvis at an abnormal angle. ABR threshold assessment shows hearing loss to the point of deafness at 3 to 4 weeks of age, the earliest age assessed. Male homozygotes display infertility, but females do breed and rear pups. Homozygotes have not been found to have a reduced lifespan, distinct from the reduced lifespan or prenatal lethality found in homozygotes for targeted deletions of this gene.
This mutation arose spontaneously in the CByJ.A-Atp2b2dfw-2J/J strain in 2003 when the flaky skin mutation might still have been segregating in the background. The mutant subline has been maintained by sibling inbreeding and the deaf waddler 2 Jackson mutation has been selectively bred out. No mice with the flaky skin phenotype have ever been detected in this mutant subline.
|Allele Name||mutation 1, Jackson|
|Gene Symbol and Name||Fgfr3, fibroblast growth factor receptor 3|
|Strain of Origin||CByJ.A-Atp2b2dfw-2J/J|
|Molecular Note||A failed complementation test with Fgfr3tm1Dor demonstrated that this mutation is an allele of Fgfr3.|