IMPC phenotypes (gene matching)
129S2-Otogtm1Prs/Orl
| Status | Available to order |
| EMMA ID | EM:01821 |
| International strain name | 129S2-Otogtm1Prs/Orl |
| Alternative name | Otog |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Otogtm1Prs |
| Gene/Transgene symbol | Otog |
Information from provider
| Provider | SIMMLER MARIE-CHRISTINE |
| Provider affiliation | Institut Jacques-Monod, CNRS, Equipe labellisée INSERM U950 |
| Genetic information | To inactivate the Otog gene the first three exons were removed and replaced with the lacZ gene fused in-frame with the Otog translation initiation codon. |
| Phenotypic information | In Otog -/- mice, both vestibular and auditory functions were impaired. |
| References |
|
Information from EMMA
| Archiving centre | Institut de Transgenose, INTRAGENE, Orléans, France |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Autosomal recessive non-syndromic sensorineural deafness type DFNB / Orphanet_90636
MGI phenotypes (allele matching)
- abnormal cochlea morphology / MGI
- circling / MGI
- abnormal posture / MGI
- impaired swimming / MGI
- impaired righting response / MGI
- impaired balance / MGI
- abnormal semicircular canal morphology / MGI
- detached otolithic membrane / MGI
- abnormal tectorial membrane morphology / MGI
- abnormal crista ampullaris morphology / MGI
- head tilt / MGI
- abnormal vestibular saccule morphology / MGI
- abnormal utricle morphology / MGI
- impaired hearing / MGI
- absent pinna reflex / MGI
- increased or absent threshold for auditory brainstem response / MGI
MGI phenotypes (gene matching)
- abnormal cochlea morphology / MGI
- circling / MGI
- hyperactivity / MGI
- impaired coordination / MGI
- abnormal pinna reflex / MGI
- abnormal posture / MGI
- impaired swimming / MGI
- impaired righting response / MGI
- impaired balance / MGI
- abnormal placing response / MGI
- reduced fertility / MGI
- deafness / MGI
- abnormal semicircular canal morphology / MGI
- abnormal otolith morphology / MGI
- abnormal otolithic membrane morphology / MGI
- detached otolithic membrane / MGI
- abnormal tectorial membrane morphology / MGI
- abnormal ear physiology / MGI
- abnormal crista ampullaris morphology / MGI
- abnormal vestibular saccular macula morphology / MGI
- decreased vestibular hair cell stereocilia number / MGI
- head tilt / MGI
- abnormal vestibular saccule morphology / MGI
- abnormal utricle morphology / MGI
- impaired hearing / MGI
- nonsyndromic hearing impairment / MGI
- absent pinna reflex / MGI
- absent startle reflex / MGI
- increased or absent threshold for auditory brainstem response / MGI
Literature references
- Twister mutant mice are defective for otogelin, a component specific to inner ear acellular membranes;Simmler MC, Zwaenepoel I, Verpy E, Guillaud L, Elbaz C, Petit C, Panthier JJ;2000;Mammalian genome : official journal of the International Mammalian Genome Society;11;960-6; 11063250
- Targeted disruption of otog results in deafness and severe imbalance.;Simmler M C, Cohen-Salmon M, El-Amraoui A, Guillaud L, Benichou J C, Petit C, Panthier J J, ;2000;Nature genetics;24;139-43; 10655058