| Status | Available to order |
| EMMA ID | EM:06052 |
| International strain name | Cnbc:NMRI-conls |
| Alternative name | stock HsdWin:NMRI-coneless |
| Strain type | Spontaneous |
| Allele/Transgene symbol | Tyrc, |
| Gene/Transgene symbol | Tyr |
| Provider | Lluis Montoliu |
| Provider affiliation | Departamento de Biologia Molecular y Celular, CNB-CSIC, Centro Nacional de Biotecnologia |
| Genetic information | Some individuals from the stock albino outbred HsdWin:NMRI were phenotyped and found to have little or no photoreceptor cone-derived ERG signal, a phenotype termed "coneless". After several pedigrees were analyzed and phenotyped it was concluded that this spontaneous mutation was monogenic, autosomal and inherited as recessive. The gene causing this mutation is currently being investigated. |
| Phenotypic information | Little or no-cone-derived ERG signal, confirmed by histology and immunohistochemistry (less cones than normal), altered retinal pigment epithelium cells with drusen and aggregates common in other retinopathies (i.e. ARD). |
| Breeding history | Once animals carrying the mutation were phenotyped were further bred among themselves, thereby constituting a sub-colony of stock outbred albino HsdWin:NMRI mice carrying the coneless mutation. They are bred among themselves. |
| References | None available |
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
| Archiving centre | CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain |
| Animals used for archiving | homozygous NMRI, homozygous NMRI |
| Stage of embryos | 2-cell |
Orphanet associated rare diseases, based on orthologous gene matching
