- diluted coat color / MGI
- abnormal eye pigmentation / MGI
- variegated coat color / MGI
- absent coat pigmentation / MGI
- abnormal coat/hair pigmentation / MGI
- absent eye pigmentation / MGI
- abnormal coat appearance / MGI
- decreased eye pigmentation / MGI
- mottled coat / MGI
- belly spot / MGI
- hypopigmentation / MGI
- variegated eye pigmentation pattern / MGI
- decreased ear pigmentation / MGI
STOCK Tyrc-em/Cnbc
| Status | Available to order |
| EMMA ID | EM:04769 |
| Citation information | RRID:IMSR_EM:04769 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 | STOCK Tyrc-em/Cnbc |
| Alternative name | Tyr |
| Strain type | Spontaneous |
| Allele/Transgene symbol | Tyrc-em, Tyrc |
| Gene/Transgene symbol | Tyr, Tyr |
Information from provider
| Provider | Lluis Montoliu |
| Provider affiliation | Departamento de Biologia Molecular y Celular, CNB-CSIC, Centro Nacional de Biotecnologia |
| Additional owner | The original Tyrc-em extreme dilution mottled allele is kept at MRC-Harwell, FESA. Person of contact: Martin Fray |
| Genetic information | Mice carrying the Tyrc-em "extreme dilution mottled" allele were imported as live animals from MRC Harwell (FESA, Peter Glenister) in 2001 after rescuing the line from frozen embryos. Genotype received included: Tyrc-em/Tyr+. Since then they were bred to albino outbred Hsd:NMRI mice and eventually maintained as homozygous Tyrc-em/Tyrc-em. The Tyrc-em allele is a mutation that occurred in the Tyrc-m stock. The molecular basis was established in 2005, by the laboratory of Lluis Montoliu (Lavado et al. 2005 JBC). |
| Phenotypic information | Tyrc-em "extreme dilution mottled" mice have a pale almost-albino coat, with some pigmentation in ears, and ruby eyes. Homozygous are darker (more pigmented) than heterozygous, which appear to be almost-albino, with the exception of a somewhat "dirty white" coat colour. |
| Breeding history | Since 2001, the Tyrc-em extreme dilution mottled allele has been bred and maintained, as homozygous, in albino outbred Hsd:NMRI mouse strain. |
| 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 | homozygous NMRI males, wild-type NMRI 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
- Molecular basis of the extreme dilution mottled mouse mutation: a combination of coding and noncoding genomic alterations.;Lavado Alfonso, Olivares Concepción, García-Borrón José Carlos, Montoliu Lluís, ;2005;The Journal of biological chemistry;280;4817-24; 15572362
- Modification of c-locus alleles - Mcm;Phillips RJS;1980;Mouse News Lett.;62;51-2;
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