C3HeB/FeJ-Atp2b2^Obv/IegWtsiCnbc

Status	Available to order
EMMA ID	EM:05047
International strain name	C3HeB/FeJ-Atp2b2^Obv/IegWtsiCnbc
Alternative name	Oblivion
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Atp2b2^Obv
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	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 Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.;White Jacqueline K, Gerdin Anna-Karin, Karp Natasha A, Ryder Ed, Buljan Marija, Bussell James N, Salisbury Jennifer, Clare Simon, Ingham Neil J, Podrini Christine, Houghton Richard, Estabel Jeanne, Bottomley Joanna R, Melvin David G, Sunter David, Adams Niels C, null null, Tannahill David, Logan Darren W, Macarthur Daniel G, Flint Jonathan, Mahajan Vinit B, Tsang Stephen H, Smyth Ian, Watt Fiona M, Skarnes William C, Dougan Gordon, Adams David J, Ramirez-Solis Ramiro, Bradley Allan, Steel Karen P, ;2013;Cell;154;452-64; 23870131
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

MGI phenotypes (gene matching)

abnormal inner ear morphology / MGI
cochlear degeneration / MGI
abnormal inner ear vestibule morphology / MGI
abnormal organ of Corti morphology / MGI
organ of Corti degeneration / MGI
abnormal cell death / MGI
tremors / MGI
abnormal cerebral cortex morphology / MGI
abnormal cerebellum morphology / MGI
small cerebellum / MGI
increased Purkinje cell number / MGI
thin cerebellar molecular layer / MGI
decreased body weight / MGI
decreased body size / MGI
ataxia / MGI
circling / MGI
impaired coordination / MGI
abnormal gait / MGI
stereotypic behavior / MGI
head bobbing / MGI
decreased startle reflex / MGI
abnormal posture / MGI
limb grasping / MGI
abnormal motor coordination/balance / MGI
impaired swimming / MGI
impaired righting response / MGI
impaired limb coordination / MGI
impaired balance / MGI
infertility / MGI
abnormal reflex / MGI
abnormal hearing physiology / MGI
deafness / MGI
abnormal cochlear ganglion morphology / MGI
cochlear ganglion degeneration / MGI
absent otoliths / MGI
abnormal postural reflex / MGI
no phenotypic analysis / MGI
absent tunnel of Corti / MGI
abnormal Purkinje cell innervation / MGI
abnormal cerebellar granule cell morphology / MGI
abnormal calcium ion homeostasis / MGI
absent organ of Corti supporting cells / MGI
absent pillar cells / MGI
absent vestibular hair cells / MGI
vestibular saccular degeneration / MGI
cochlear hair cell degeneration / MGI
cochlear inner hair cell degeneration / MGI
cochlear outer hair cell degeneration / MGI
absent cochlear hair cells / MGI
decreased cochlear hair cell number / MGI
abnormal cochlear microphonics / MGI
abnormal cochlear nerve compound action potential / MGI
abnormal hair cell mechanoelectric transduction / MGI
abnormal cochlear hair cell physiology / MGI
abnormal vestibular hair cell physiology / MGI
decreased organ of Corti supporting cell number / MGI
abnormal cochlear hair cell stereociliary bundle morphology / MGI
abnormal outer hair cell stereociliary bundle morphology / MGI
absent outer hair cell stereocilia / MGI
pillar cell degeneration / MGI
increased susceptibility to noise-induced hearing loss / MGI
abnormal auditory cortex morphology / MGI
abnormal cochlear nerve morphology / MGI
abnormal distortion product otoacoustic emission / MGI
absent distortion product otoacoustic emissions / MGI
abnormal auditory brainstem response / MGI
sensorineural hearing loss / MGI
abnormal vestibular system physiology / MGI
increased susceptibility to age-related hearing loss / MGI
syndromic hearing loss / MGI
absent linear vestibular evoked potential / MGI
reduced linear vestibular evoked potential / MGI
lethargy / MGI
head tossing / MGI
hearing/vestibular/ear phenotype / MGI
behavior/neurological phenotype / MGI
abnormal vestibular saccule morphology / MGI
impaired hearing / MGI
absent pinna reflex / MGI
abnormal Purkinje cell differentiation / MGI
abnormal auditory brainstem response waveform shape / MGI
increased or absent threshold for auditory brainstem response / MGI
decreased threshold for auditory brainstem response / MGI
abnormal cochlear VIII nucleus morphology / 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
Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.;White Jacqueline K, Gerdin Anna-Karin, Karp Natasha A, Ryder Ed, Buljan Marija, Bussell James N, Salisbury Jennifer, Clare Simon, Ingham Neil J, Podrini Christine, Houghton Richard, Estabel Jeanne, Bottomley Joanna R, Melvin David G, Sunter David, Adams Niels C, null null, Tannahill David, Logan Darren W, Macarthur Daniel G, Flint Jonathan, Mahajan Vinit B, Tsang Stephen H, Smyth Ian, Watt Fiona M, Skarnes William C, Dougan Gordon, Adams David J, Ramirez-Solis Ramiro, Bradley Allan, Steel Karen P, ;2013;Cell;154;452-64; 23870131

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Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

^* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

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Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

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C3HeB/FeJ-Atp2b2Obv/IegWtsiCnbc