CByJ.A-Atp2b2^dfw-2J/J

Stock number: 002894
Product name: deaf waddler 2 Jackson
Research areas: Cell Biology Research, Neurobiology Research, Sensorineural Research

Description

These mice carry a spontaneous mutation at the Atp2b2 locus characterized by a hesitant, wobbly gait, head bobbing behavior, and deafness.

Detailed description

The deaf waddler 2J allele (Atp2b2^dfw-2J) arose spontaneously in a congenic substrain of BALB/cByJ mice, CByJ.A-fsn/J. Homozygous mutant mice are viable, but neither sex will breed. They are recognizable by 12-14 days of age by their hesitant, wobbly gait and head bobbing behavior. Homozygotes also develop a slight body tremor and become increasingly lethargic. Homozygous mutant mice are profoundly deaf, exhibiting no discernible auditory brainstem responses (ABR) to stimuli up to 100 dB. Heterozygous Atp2b2^dfw-2J mutant mice also show age-dependent changes in ABR and progressive hearing loss as a result of a modifier allele (ahl) present in BALB/cByJ mice.

Allele

Symbol: Atp2b2^dfw-2J
Name: deaf waddler 2 Jackson
MGI accession ID: MGI:1857396
Generation method: Spontaneous
Synonyms: dfw-2J
Marker symbol: Atp2b2
Marker name: ATPase, Ca++ transporting, plasma membrane 2
Marker synonyms: D6Abb2e; DFNA82; Gena300; jog; PMCA2; PMCA2a; PMCA2i; Tmy; wms
Chromosome: 6
Strain of origin: CByJ.A-Ttc7^fsn/J
Molecular note: A 2 bp nucleotide deletion at positions 1368 and 1369 cause a frameshift that results in a premature stop and truncation of the encoded protein at position 471.