- 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
Cnbc:NMRI-Tg(Tyr)1999Lmon
| Status | Available to order |
| EMMA ID | EM:03096 |
| Citation information | RRID:IMSR_EM:03096 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 | Cnbc:NMRI-Tg(Tyr)1999Lmon |
| Alternative name | YRT2 |
| Strain type | Transgenic Strains |
| Allele/Transgene symbol | Tg(Tyr)1999Lmon, Tyrc |
| Gene/Transgene symbol | Tg(Tyr)1999Lmon, Tyr |
Information from provider
| Provider | Lluis Montoliu |
| Provider affiliation | Departamento de Biologia Molecular y Celular, CNB-CSIC, Centro Nacional de Biotecnologia |
| Additional owner | Prof. Dr. Günther Schütz, DKFZ, Dept. Molecular Biology of the Cell I, Heidelberg, Germany |
| Genetic information | Transgenic mice carrying 1 copy of the 250 kb YAC YRT2 containing the entire mouse tyrosinase expression domain, including all five exons, 5' UTR and 3' UTR and LCR regulatory elements. Mice were generated in the albino outbred WinHsd:NMRI background whose albino phenotype was fully rescued by the YAC YRT2 transgene, thereby becoming wild-type pigmented. The YAC YRT2 is derived from a YAC library made from C3H mouse genomic DNA. |
| Phenotypic information | Pigmented. Transgenic mice YRT2 in the NMRI background are undistinguishable from wild-type pigmented (agouti colour) mice. They have also rescued the retinal and visual abnormalities associated with albinism. |
| Breeding history | Transgenic mice YRT2 were generated in 1992 by pronuclear microinjection using fertilised albino outbred NMRI oocytes and have been maintained as hemizygous since then in the same background. |
| References |
|
| 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 | heterozygous males, wild-type females |
| Stage of embryos | 8-cell |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- 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 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
- Ectopic expression of tyrosine hydroxylase in the pigmented epithelium rescues the retinal abnormalities and visual function common in albinos in the absence of melanin.;Lavado Alfonso, Jeffery Glen, Tovar Victoria, de la Villa Pedro, Montoliu Lluís, ;2006;Journal of neurochemistry;96;1201-11; 16445854
- A yeast artificial chromosome covering the tyrosinase gene confers copy number-dependent expression in transgenic mice.;Schedl A, Montoliu L, Kelsey G, Schütz G, ;1993;Nature;362;258-61; 8459851
- Generation of transgenic mice with yeast artificial chromosomes.;Montoliu L, Schedl A, Kelsey G, Lichter P, Larin Z, Lehrach H, Schütz G, ;1993;Cold Spring Harbor symposia on quantitative biology;58;55-62; 7956069
- A method for the generation of YAC transgenic mice by pronuclear microinjection.;Schedl A, Larin Z, Montoliu L, Thies E, Kelsey G, Lehrach H, Schütz G, ;1993;Nucleic acids research;21;4783-7; 8233827
- Germ line transmission of yeast artificial chromosomes in transgenic mice.;Montoliu L, Schedl A, Kelsey G, Zentgraf H, Lichter P, Schütz G, ;1994;Reproduction, fertility, and development;6;577-84; 7569036
- YAC transgenesis in farm animals: rescue of albinism in rabbits.;Brem G, Besenfelder U, Aigner B, Müller M, Liebl I, Schütz G, Montoliu L, ;1996;Molecular reproduction and development;44;56-62; 8722692
- A locus control region at -12 kb of the tyrosinase gene.;Montoliu L, Umland T, Schütz G, ;1996;The EMBO journal;15;6026-34; 8947025
- Correction of abnormal retinal pathways found with albinism by introduction of a functional tyrosinase gene in transgenic mice.;Jeffery G, Schütz G, Montoliu L, ;1994;Developmental biology;166;460-4; 7813769
- Correction of retinal abnormalities found in albinism by introduction of a functional tyrosinase gene in transgenic mice and rabbits.;Jeffery G, Brem G, Montoliu L, ;1997;Brain research. Developmental brain research;99;95-102; 9088570
- Artificial chromosome transgenesis in pigmentary research.;Giraldo Patricia, Montoliu Lluís, ;2002;Pigment cell research;15;258-64; 12100491
- Variegated expression and delayed retinal pigmentation during development in transgenic mice with a deletion in the locus control region of the tyrosinase gene.;Giménez E, Giraldo P, Jeffery G, Montoliu L, ;2001;Genesis (New York, N.Y. : 2000);30;21-5; 11353514
- Regional abnormalities in retinal development are associated with local ocular hypopigmentation.;Giménez Estela, Lavado Alfonso, Jeffery Glen, Montoliu Lluís, ;2005;The Journal of comparative neurology;485;338-47; 15803509
- A strategy to study tyrosinase transgenes in mouse melanocytes.;Lavado Alfonso, Matheu Ander, Serrano Manuel, Montoliu Lluís, ;2005;BMC cell biology;6;18; 15826307
- 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
- The Value of Mouse Models of Rare Diseases: A Spanish Experience.;Murillo-Cuesta Silvia, Artuch Rafael, Asensio Fernando, de la Villa Pedro, Dierssen Mara, Enríquez Jose Antonio, Fillat Cristina, Fourcade Stéphane, Ibáñez Borja, Montoliu Lluis, Oliver Eduardo, Pujol Aurora, Salido Eduardo, Vallejo Mario, Varela-Nieto Isabel, ;2020;Frontiers in genetics;11;583932; 33173540
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