IMPC phenotypes (allele matching)
C57BL/6N-Atm1Brd Rasal2tm1a(EUCOMM)Wtsi Atp2b2Tkh/WtsiH[cc]
| Status | Available to order |
| EMMA ID | EM:13790 |
| International strain name | C57BL/6N-Atm1Brd Rasal2tm1a(EUCOMM)Wtsi Atp2b2Tkh/WtsiH[cc] |
| Alternative name | Tikho, Atp2b2-Tkh |
| Strain type | Spontaneous |
| Allele/Transgene symbol | Atp2b2Tkh, Rasal2tm1a(EUCOMM)Wtsi |
| Gene/Transgene symbol | Atp2b2, Rasal2 |
Information from provider
| Provider | Karen Steel |
| Provider affiliation | King |
| Genetic information | A missense mutation in the Atp2b2 gene, g.6:113759212G>C, causing an amino acid change of p.(Arg969Gly) (ENSMUST00000101045). |
| Phenotypic information | Homozygous:Mice homozygous for this allele exhibited rapidly progressive hearing loss.Heterozygous:Heterozygotes displayed slower progressive hearing loss, with the high frequencies affected first. |
| Breeding history | Bred for several years within a closed colony on a C57BL/6N background. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
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
- premature death / MGI
- decreased tumor latency / MGI
Literature references
- 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