| Status | Available to order |
| EMMA ID | EM:06085 |
| International strain name | STOCK Tyrc Gpr143tm1Inc/Cnbc |
| Alternative name | HsdWin:NMRI;B6N.129-Gpr143 |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Gpr143tm1Inc, Tyrc |
| Gene/Transgene symbol | Gpr143, Tyr |
| Provider | Enrico Maria Surace |
| Provider affiliation | TIGEM (Telethon Institute of Genetics and Medicine) |
| Genetic information | The inactivation of the Gpr143 gene (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 mice and, upon transferring these mice to CNB-CSIC they have been backcrossed less than 5 times to albino outbred NMRI mice. |
| Phenotypic information | Currently Oa1-deficient mice (Gpr143 gene inactivated) are in tyrosinase-deficient mice, therefore they display in one animal the traits associated to Ocular Albinism type I (OA1) and Oculo-Cutaneous Albinism type I (OCA1), including severe visual deficits and presence of abnormal giant melanosomes in retinal pigment epithelium cells. |
| Breeding history | Mutant was created in AB2.2 ES cell background and resulting chimeras backcrossed 10 times to C57BL/6N. Mice were then transferred to CNB-CSIC where they have been backcrossed less than 5 times to albino outbred HsdWin:NMRI Stock. |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
| Archiving centre | CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain |
Orphanet associated rare diseases, based on orthologous gene matching
