IMPC phenotypes (allele matching)
- decreased circulating amylase level / IMPC
C3HeB/FeJ-Atp2b2Obv/IegWtsiCnbc
| Status | Available to order |
| EMMA ID | EM:05047 |
| International strain name | C3HeB/FeJ-Atp2b2Obv/IegWtsiCnbc |
| Alternative name | Oblivion |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Atp2b2Obv, |
| Gene/Transgene symbol | Atp2b2 |
Information from provider
| Provider | Karen Steel |
| Provider affiliation | Wellcome Trust Sanger Institute |
| Additional owner | Helmholtz Zentrum Muenchen carried out the mutagenesis and discovered the head-bobbing. |
| Genetic information | ENU mutagenesis created a C to T transition at position 2630 that results in an amino acid substitution of phenylalanine for serine at position 877 (S877F). This mutation occurs in transmembrane domain 6 of the PMCA2 pump, the resident calcium pump of the hair cell stereocilia. |
| Phenotypic information | Obv/+ mutants showed increasing hearing impairment from post-natal day 0 to 90, and loss of auditory function was followed by a corresponding base to apex progression of hair cell degeneration. Obv/Obv mutants were small, showed severe vestibular dysfunction by 2 weeks of age, and were completely deaf from birth; sensory hair cells were completely degenerate in the basal turn of the cochlea, although hair cells appeared normal in the apex. |
| Breeding history | Originated from ENU mutagenesis programme in Munich on a C3HeB/FeJ background and maintained on the same background within a closed colony or backcrossed to C3HeB/FeJ ever since. |
| References |
|
| Homozygous fertile | no |
| Homozygous viable | no |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain |
Disease and phenotype information
MGI phenotypes (allele matching)
- deafness / MGI
- cochlear hair cell degeneration / MGI
- cochlear inner hair cell degeneration / MGI
- cochlear outer hair cell degeneration / MGI
- abnormal vestibular hair cell physiology / MGI
- impaired hearing / MGI
- absent pinna reflex / MGI
- increased or absent threshold for auditory brainstem response / MGI
- organ of Corti degeneration / MGI
- decreased body weight / MGI
- decreased body size / MGI
- ataxia / MGI
- circling / MGI
- impaired righting response / MGI
- impaired balance / MGI
- abnormal reflex / MGI
- pillar cell degeneration / MGI
- abnormal vestibular system physiology / MGI
- head tossing / MGI
Literature references
- Characterization of a new mouse mutant, flouncer, with a balance defect and inner ear malformation.;Pau Henry, Hawker Kelvin, Fuchs Helmut, De Angelis Martin Hrabé, Steel Karen P, ;2004;Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology;25;707-13; 15353999
- The novel mouse mutation Oblivion inactivates the PMCA2 pump and causes progressive hearing loss.;Spiden Sarah L, Bortolozzi Mario, Di Leva Francesca, de Angelis Martin Hrabé, Fuchs Helmut, Lim Dmitry, Ortolano Saida, Ingham Neil J, Brini Marisa, Carafoli Ernesto, Mammano Fabio, Steel Karen P, ;2008;PLoS genetics;4;e1000238; 18974863