- 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-conls+
Status | Available to order |
EMMA ID | EM:06053 |
International strain name | Cnbc:NMRI-conls+ |
Alternative name | stock Hsd:NMRI-coneless<+>/Lmon |
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 |
Genetic information | Some individuals from the stock albino outbred HsdWin:NMRI were phenotyped and found to have little or no photoreceptor cone-derived ERG signal, a phenotype termed "coneless". After several pedigrees were analyzed and phenotyped it was concluded that this spontaneous mutation was monogenic, autosomal and inherited as recessive. This substrain carries the wild-type allele of the gene. The gene causing this mutation is currently being investigated. |
Phenotypic information | Some individuals from the stock albino outbred HsdWin:NMRI were phenotyped and found to have little or no photoreceptor cone-derived ERG signal, a phenotype termed "coneless". After several pedigrees were analyzed and phenotyped it was concluded that this spontaneous mutation was monogenic, autosomal and inherited as recessive. This substrain carries the wild-type allele of the gene. The gene causing this mutation is currently being investigated. |
Breeding history | Once animals carrying the mutation were phenotyped were further bred among themselves, thereby constituting a sub-colony of stock outbred albino HsdWin:NMRI mice carrying the coneless wild-type allele. They are bred among themselves. |
References | None available |
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
- 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)
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