- 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 |
International strain name | STOCK Tyrc-em/Cnbc |
Alternative name | Tyr |
Strain type | Spontaneous |
Allele/Transgene symbol | Tyrc, |
Gene/Transgene symbol | 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 Tyr |
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, wild-type NMRI |
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)
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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