IMPC phenotypes (allele matching)
C57BL/6N-Atm1Brd Pcdh15Jigl Ccdc122tm1a(KOMP)Wtsi/WtsiH[cc]
| Status | Available to order |
| EMMA ID | EM:13793 |
| Citation information | RRID:IMSR_EM:13793 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 | C57BL/6N-Atm1Brd Pcdh15Jigl Ccdc122tm1a(KOMP)Wtsi/WtsiH[cc] |
| Alternative name | Jiggle, Pcdh15-jigl |
| Strain type | Spontaneous |
| Allele/Transgene symbol | Pcdh15jigl, Ccdc122tm1a(KOMP)Wtsi |
| Gene/Transgene symbol | Pcdh15, Ccdc122 |
Information from provider
| Provider | Karen Steel |
| Provider affiliation | King |
| Genetic information | A deletion towards the 3’ end of Pcdh15, which includes up to 6 coding exons depending on the transcript. There are 29 protein-coding isoforms of Pcdh15 (ensembl.org, accessed July 2021), 22 of which contain the affected exons. The deletion results in the loss of the 3’ end of the coding sequence for eleven of those transcripts, and in the loss of internal exons for the remaining eleven. We localised the 5’ breakpoint to the region between 10:74614441 and 10:74619826, and the 3’ breakpoint to the region between 10:74634994 and 10:74635149. |
| Phenotypic information | Homozygous:Pcdh15 |
| Breeding history | These mice have been bred in a closed colony on the original C57BL/6N background for several years. The spontaneous mutation causing the phenotype arose in a colony carrying a targeted mutation of Ccdc122 (Ccdc122tm1a(KOMP)Wtsi), but this targeted mutation is not associated with the phenotype. The Ccdc122 mutation may still be present in the line. |
| References |
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| 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
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
IMPC phenotypes (gene matching)
- increased food intake / IMPC
- decreased circulating fructosamine level / IMPC
- increased red blood cell distribution width / IMPC
- increased respiratory quotient / IMPC
- decreased total body fat amount / IMPC
- increased grip strength / IMPC
- increased bone mineral content / IMPC
- increased lean body mass / IMPC
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
- 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