- 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 |
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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
IMPC phenotypes (allele matching)
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
- Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme.;Lewis Morag A, Ingham Neil J, Chen Jing, Pearson Selina, Di Domenico Francesca, Rekhi Sohinder, Allen Rochelle, Drake Matthew, Willaert Annelore, Rook Victoria, Pass Johanna, Keane Thomas, Adams David J, Tucker Abigail S, White Jacqueline K, Steel Karen P, ;2022;BMC biology;20;67; 35296311
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