BALB/cByJ-Fgfr1^Eask/GrsrJ

Stock number: 005412
Product name: ear askew
Research areas: Developmental Biology Research, Sensorineural Research

Description

Mice carrying this spontaneous mutation of the Fgfr1 gene are characterized by hearing loss.

Detailed description

The ear askew mutation is homozygous embryonic lethal. Heterozygotes have unilateral or bilateral low-set ears and malformed pinna. There is variable expressivity. Heterozygotes are viable and fertile, but auditory brainstem response assessment shows severe hearing loss at 6 months of age.

Development

The ear askew mutation arose spontaneously in the strain BALB/cByJ-Agtpbp^pcd-3J/J at The Jackson Laboratory in 2001. This mutant subline has been maintained by sibling intercrossing heterozygotes with wild-type siblings and the -Agtpbp^pcd-3J mutation was bred out. In 2009 his strain reached generation +F16 and sperm was cryopreserved from heterozygous males.

Allele

Symbol: Fgfr1^Eask
Name: ear askew
MGI accession ID: MGI:3836281
Generation method: Spontaneous
Marker symbol: Fgfr1
Marker name: fibroblast growth factor receptor 1
Chromosome: 8
Strain of origin: BALB/cByJ-Agtpbp1^pcd-3J/J
Molecular note: This spontaneous point mutation is a C-to-G transversion at position 25,557,813 (GRCm38) that results in an asparagine to lysine substitution at amino acid 147 (p.N147K).