IMPC phenotypes (gene matching)
- increased bone mineral content / IMPC
C3H.C-Pcdh15av-Tg2742Rpw/H
| Status | Available to order |
| EMMA ID | EM:16003 |
| Citation information | RRID:IMSR_EM:16003 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | C3H.C-Pcdh15av-Tg2742Rpw/H |
| Alternative name | C3H.C-Pcdh15 |
| Strain type | Induced Mutant Strains |
| Allele/Transgene symbol | Pcdh15av-Tg2742Rpw |
| Gene/Transgene symbol | Pcdh15 |
Information from provider
| Provider | MRC, Medical Research Council |
| Provider affiliation | Mary Lyon Centre at MRC Harwell |
| Genetic information | This strain is a ENU induced mouse mutant which can be studied as a model for hereditary deafness. This mutant was identified by the lack of an auditory startle (Preyer) reflex when assessed using clickbox. Auditory brainstem recordings (ABRs) confirmed deafness in homozygotes as early as P18, which fail to show a response to any of the stimulus frequencies at the highest stimulus level (100 dB SPL). Swim tests indicated that homozygotes display a lack of balance function. The mutant mice also showed head-bobbing and circling behavior, as early as 2-3 weeks of age, indicative of early-onset vestibular dysfunction. |
| Phenotypic information | Swim tests indicated that homozygotes display a lack of balance function. The mutant mice also showed head-bobbing and circling behavior, as early as 2-3 weeks of age, indicative of early-onset vestibular dysfunction. |
| Breeding history | Generated by administration of ENU on C3H/HeH mice carrying corrected Pde6b from BalbC |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Usher syndrome type 1 / Orphanet_231169
- Autosomal recessive non-syndromic sensorineural deafness type DFNB / Orphanet_90636
MGI phenotypes (gene matching)
- abnormal organ of Corti morphology / MGI
- organ of Corti degeneration / MGI
- decreased body size / MGI
- abnormal maternal nurturing / MGI
- ataxia / MGI
- circling / MGI
- bidirectional circling / MGI
- hyperactivity / MGI
- impaired coordination / MGI
- abnormal gait / MGI
- head bobbing / MGI
- impaired swimming / MGI
- impaired righting response / MGI
- impaired balance / MGI
- postnatal growth retardation / MGI
- abnormal reflex / MGI
- deafness / MGI
- no abnormal phenotype detected / MGI
- abnormal cochlear hair cell morphology / MGI
- abnormal cochlear ganglion morphology / MGI
- cochlear ganglion degeneration / MGI
- abnormal otolith morphology / MGI
- enlarged otoliths / MGI
- absent tunnel of Corti / MGI
- abnormal cochlear sensory epithelium morphology / MGI
- cochlear ganglion hypoplasia / MGI
- abnormal pillar cell morphology / MGI
- abnormal organ of Corti supporting cell morphology / MGI
- abnormal Hensen cell morphology / MGI
- cochlear hair cell degeneration / MGI
- cochlear inner hair cell degeneration / MGI
- abnormal cochlear outer hair cell morphology / MGI
- cochlear outer hair cell degeneration / MGI
- abnormal orientation of outer hair cell stereociliary bundles / MGI
- abnormal orientation of inner hair cell stereociliary bundles / MGI
- abnormal cochlear hair cell stereociliary bundle morphology / MGI
- abnormal orientation of cochlear hair cell stereociliary bundles / MGI
- short cochlear hair cell stereocilia / MGI
- abnormal outer hair cell stereociliary bundle morphology / MGI
- decreased outer hair cell stereocilia number / MGI
- abnormal inner hair cell stereociliary bundle morphology / MGI
- fused inner hair cell stereocilia / MGI
- decreased inner hair cell stereocilia number / MGI
- abnormal cochlear hair cell inter-stereocilial links morphology / MGI
- abnormal cochlear hair bundle tip links morphology / MGI
- absent distortion product otoacoustic emissions / MGI
- absent linear vestibular evoked potential / MGI
- head tilt / MGI
- head tossing / MGI
- dystonia / MGI
- hearing/vestibular/ear phenotype / MGI
- behavior/neurological phenotype / MGI
- abnormal vestibular saccule morphology / MGI
- absent startle reflex / MGI
- retropulsion / MGI
- abnormal inner hair cell kinocilium morphology / MGI
- abnormal outer hair cell kinocilium morphology / MGI
- abnormal vestibular hair cell kinocilium morphology / MGI
- increased or absent threshold for auditory brainstem response / MGI
Literature references
- Noddy, a mouse harboring a missense mutation in protocadherin-15, reveals the impact of disrupting a critical interaction site between tip-link cadherins in inner ear hair cells.;Geng Ruishuang, Sotomayor Marcos, Kinder Kimberly J, Gopal Suhasini R, Gerka-Stuyt John, Chen Daniel H-C, Hardisty-Hughes Rachel E, Ball Greg, Parker Andy, Gaudet Rachelle, Furness David, Brown Steve D, Corey David P, Alagramam Kumar N, ;2013;The Journal of neuroscience : the official journal of the Society for Neuroscience;33;4395-404; 23467356