B6N.129S7-Gpr143tm1Inc/Cnbc
| Status | Available to order |
| EMMA ID | EM:06086 |
| Citation information | RRID:IMSR_EM:06086 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 | B6N.129S7-Gpr143tm1Inc/Cnbc |
| Alternative name | B6N.129-Gpr143 |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Gpr143tm1Inc |
| Gene/Transgene symbol | Gpr143 |
Information from provider
| Provider | Enrico Maria Surace |
| Provider affiliation | TIGEM (Telethon Institute of Genetics and Medicine) |
| Genetic information | The inactivation of the Gpr143 (Ocular Albinism type 1, OA1) gene was done at TIGEM in AB2.2 ES cells, replacing the first exon by a HPRT cassette. Resulting chimeras were backcrossed 10 times to C57BL/6N and since then have been maintained in this genetic background. |
| Phenotypic information | These mice display the traits associated to Ocular Albinism type 1 (OA1), including severe visual deficits and presence of abnormal giant melanosomes in retinal pigment epithelium cells. |
| Breeding history | The mutant was created in AB2.2 ES cell background and resulting chimeras backcrossed 10 times to C57BL/6N where they have been maintained since. |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain |
| Animals used for archiving | homozygous C57BL/6N males, homozygous C57BL/6N females |
| Stage of embryos | 2-cell |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- X-linked recessive ocular albinism / Orphanet_54
Literature references
- Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1.;Incerti B, Cortese K, Pizzigoni A, Surace E M, Varani S, Coppola M, Jeffery G, Seeliger M, Jaissle G, Bennett D C, Marigo V, Schiaffino M V, Tacchetti C, Ballabio A, ;2000;Human molecular genetics;9;2781-8; 11092754