CByJ.Cg-Fgfr3^m1J/GrsrJ

Stock number: 014182
Research areas: Cell Biology Research, Developmental Biology Research, Sensorineural Research

Description

Homozygous mutants exhibit skeletal deformities and hearing loss.

Detailed description

Mice homozygous for the recessive Fgfr3^m1J 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.

Development

This mutation arose spontaneously in the CByJ.A-Atp2b2^dfw-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

Symbol: Fgfr3^m1J
Name: mutation 1, Jackson
MGI accession ID: MGI:4847622
Generation method: Spontaneous
Marker symbol: Fgfr3
Marker name: fibroblast growth factor receptor 3
Marker synonyms: ACH; CD333; CEK2; Fgfr-3; HBGFR; HSFGFR3EX; JTK4; sam3
Chromosome: 5
Strain of origin: CByJ.A-Atp2b2^dfw-2J/J
Molecular note: A failed complementation test with Fgfr3^tm1Dor demonstrated that this mutation is an allele of Fgfr3.