IMPC phenotypes (gene matching)
STOCK Pmeltm1.1Sson/Kctt
| Status | Available to order |
| EMMA ID | EM:06222 |
| Citation information | RRID:IMSR_EM:06222 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 Pmeltm1.1Sson/Kctt |
| Alternative name | Pmel KO |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Pmeltm1.1Sson |
| Gene/Transgene symbol | Pmel |
Information from provider
| Provider | Susanne Kerje |
| Provider affiliation | IMBIM, Uppsala University |
| Genetic information | Exons 2 and 3 of the Pmel 17 gene have been knocked out resulting in a non functional protein. |
| Phenotypic information | Mice lacking PMEL have almost normal fur pigmentation. Loss of PMEL has a dramatic effect on the morphology of the melanosomes in skin, hair, and eye, such that the normally rod-shaped melanosomes in wild-type animals are spherical in the knockout mice. The knockout animals also have a substantial reduction in the content of black pigment in hair. |
| Breeding history | The Pmel KO is maintained in a C57BL/6 background. |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Karolinska Institutet, Stockholm, Sweden |
Disease and phenotype information
MGI phenotypes (gene matching)
- diluted coat color / MGI
- irregular coat pigmentation / MGI
- pigmentation phenotype / MGI
- no phenotypic analysis / MGI
- abnormal melanosome morphology / MGI
- homeostasis/metabolism phenotype / MGI
- hematopoietic system phenotype / MGI
- reduced hair shaft melanin granule number / MGI
- abnormal tail hair pigmentation / MGI
- abnormal retinal melanin granule morphology / MGI
- abnormal choroid melanin granule morphology / MGI
Literature references
- Inactivation of Pmel alters melanosome shape but has only a subtle effect on visible pigmentation.;Hellström Anders R, Watt Brenda, Fard Shahrzad Shirazi, Tenza Danièle, Mannström Paula, Narfström Kristina, Ekesten Björn, Ito Shosuke, Wakamatsu Kazumasa, Larsson Jimmy, Ulfendahl Mats, Kullander Klas, Raposo Graça, Kerje Susanne, Hallböök Finn, Marks Michael S, Andersson Leif, ;2011;PLoS genetics;7;e1002285; 21949658