- absent coat pigmentation / MGI
- diluted coat color / MGI
- abnormal coat/hair pigmentation / MGI
- absent eye pigmentation / MGI
- abnormal coat appearance / MGI
- decreased eye pigmentation / MGI
- mottled coat / MGI
- abnormal eye pigmentation / MGI
- belly spot / MGI
- hypopigmentation / MGI
- variegated eye pigmentation pattern / MGI
- decreased ear pigmentation / MGI
CnbcLmon:NMRI-Tg(tetO-Tyr)1335Lmon Tg(Tyr-rtTA)4111Lmon Gnat2+
Status | Available to order |
EMMA ID | EM:08317 |
International strain name | CnbcLmon:NMRI-Tg(tetO-Tyr)1335Lmon Tg(Tyr-rtTA)4111Lmon Gnat2+ |
Alternative name | TRETyBS/HSTyrTET/Gnat2+ |
Strain type | Other |
Allele/Transgene symbol | Gnat2+, |
Gene/Transgene symbol | Gnat2 |
Information from provider
Provider | Lluis Montoliu |
Provider affiliation | Molecular and Cellular Biology, CNB-CSIC |
Genetic information | This strain derives from EMMA mouse strain EM:02611, in which the wild-type allele of the Gnat2 locus (Gnat2+) has been selected, hence producing a new strain. Therefore, this is also a double transgenic mouse line carrying two constructs for doxycycline-mediated tyrosinase gene regulation (TET-ON model), both in homozygous state. This is an animal model for rare disease oculocutaneous albinism type 1 (OCA1). It uses the first Tet system developed by H. Bujard and colleagues, therefore the used version of the transactivator was "Tet On/Off" (Tet On scheme, using rtTA) and the version of the Tet promoter was "PTRE" (see PubMed ID 15250938). |
Phenotypic information | Homozygous:In the off-status (without Dox), externally undistinguishable from a common albino mouse phenotype. Upon Dox treatment, from first gestational week onwards pups will show a darker ruby eye colour. Coat colour is not modified by Dox treatment. Mice do not have the retinal degeneration associated to the Gnat2 |
Breeding history | Transgenic mice were initially generated in FVB/HanHsd albino inbred mice but expanded in HsdWin:NMRI albino outbred mice to avoid the retinal degeneration mutation (Pdebrd1) carried by the FVB genotype. Mice were bred to double transgenic homozygosity and have been maintained since then as double transgenic homozygous in HsdWin:NMRI albino outbred mice (more than 20 generations). Recently, a mutation for the Gnat2 locus was discovered in HsdWin:NMRI background (Gnat2cpfl3) and this new line has been selected for the homozygous wild-type allele (Gnat2+). |
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 NMRI, homozygous NMRI |
Stage of embryos | 2-cell |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Achromatopsia / Orphanet_49382
- Progressive cone dystrophy / Orphanet_1871
- Temperature-sensitive oculocutaneous albinism type 1 / Orphanet_352737
- Oculocutaneous albinism type 1A / Orphanet_79431
- Oculocutaneous albinism type 1B / Orphanet_79434
- Minimal pigment oculocutaneous albinism type 1 / Orphanet_352734
- Ocular albinism with congenital sensorineural deafness / Orphanet_352740
MGI phenotypes (allele matching)
Literature references
- A transgenic mouse model with inducible Tyrosinase gene expression using the tetracycline (Tet-on) system allows regulated rescue of abnormal chiasmatic projections found in albinism.;Giménez Estela, Lavado Alfonso, Giraldo Patricia, Cozar Patricia, Jeffery Glen, Montoliu Lluís, ;2004;Pigment cell research;17;363-70; 15250938
- New animal models to study the role of tyrosinase in normal retinal development.;Lavado Alfonso, Montoliu Lluis, ;2006;Frontiers in bioscience : a journal and virtual library;11;743-52; 16146766
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