- 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 | Transgenic Strains |
Allele/Transgene symbol | Tg(tetO-Tyr)1335Lmon, Tg(Tyr-rtTA)4111Lmon, Tyrc, Gnat2+ |
Gene/Transgene symbol | Tg(tetO-Tyr)1335Lmon, Tg(Tyr-rtTA)4111Lmon, Tyr, 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 Gnat2cpfl3 mutation because this mouse strain has been selected for the Gnat2+ allele.Heterozygous:Similar to homozygous state. |
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)
MGI phenotypes (gene matching)
- abnormal retinal photoreceptor morphology / MGI
- abnormal retinal cone cell morphology / MGI
- abnormal retina morphology / MGI
- gliosis / MGI
- abnormal retinal vasculature morphology / MGI
- abnormal photoreceptor outer segment morphology / MGI
- abnormal cone electrophysiology / MGI
- abnormal Muller cell morphology / MGI
- abnormal horizontal cell morphology / MGI
- abnormal retinal rod bipolar cell morphology / MGI
- abnormal retinal cone bipolar cell morphology / MGI
- retinal cone cell degeneration / MGI
- decreased a wave amplitude / MGI
- decreased b wave amplitude / MGI
- abnormal cell morphology / MGI
- diluted coat color / MGI
- irregular coat pigmentation / MGI
- belly spot / MGI
- absent hair follicle melanin granules / MGI
- shiny fur / MGI
- mottled coat / MGI
- abnormal retinal photoreceptor morphology / MGI
- pigmentation phenotype / MGI
- absent skin pigmentation / MGI
- abnormal keratinocyte apoptosis / MGI
- abnormal eye pigmentation / MGI
- abnormal retina morphology / MGI
- retinal degeneration / MGI
- decreased retinal photoreceptor cell number / MGI
- abnormal coat appearance / MGI
- male infertility / MGI
- abnormal coat/hair pigmentation / MGI
- prenatal lethality / MGI
- premature death / MGI
- abnormal vision / MGI
- abnormal skin pigmentation / MGI
- no abnormal phenotype detected / MGI
- no phenotypic analysis / MGI
- abnormal cell nucleus morphology / MGI
- failure of zygotic cell division / MGI
- single kidney / MGI
- absent seminal vesicle / MGI
- abnormal chromosome morphology / MGI
- chromosome breakage / MGI
- induced chromosome breakage / MGI
- increased cellular sensitivity to ionizing radiation / MGI
- abnormal miscarriage rate / MGI
- abnormal hair follicle melanogenesis / MGI
- abnormal melanosome morphology / MGI
- abnormal iris pigmentation / MGI
- absent coat pigmentation / MGI
- decreased eye pigmentation / MGI
- abnormal aqueous drainage system morphology / MGI
- abnormal retinal ganglion layer morphology / MGI
- abnormal eye physiology / MGI
- abnormal intraocular pressure / MGI
- variegated coat color / MGI
- homeostasis/metabolism phenotype / MGI
- reproductive system phenotype / MGI
- vision/eye phenotype / MGI
- hypopigmentation / MGI
- ocular albinism / MGI
- absent eye pigmentation / MGI
- decreased survivor rate / MGI
- transverse fur striping / MGI
- mortality/aging / MGI
- abnormal survival / MGI
- integument phenotype / MGI
- neonatal lethality, complete penetrance / MGI
- perinatal lethality, complete penetrance / MGI
- prenatal lethality, complete penetrance / MGI
- embryonic lethality, complete penetrance / MGI
- embryonic lethality at implantation, complete penetrance / MGI
- embryonic lethality before implantation, complete penetrance / MGI
- decreased ear pigmentation / MGI
- variegated eye pigmentation pattern / MGI
- decreased a wave amplitude / MGI
- decreased b wave amplitude / MGI
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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