B6N.129S7-Gpr143tm1Inc/Cnbc
| Status | Available to order |
| EMMA ID | EM:06086 |
| 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, homozygous C57BL/6N |
| 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