OMIA:000031-9669 : Coat colour, dilution, MLPH-related in Mustela putorius furo (domestic ferret) |
In other species: dog , domestic cat , taurine cattle , sheep , rabbit , American mink
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 609227 (trait) , 606526 (gene)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2023
Cross-species summary: FN acknowledges invaluable feedback from Cord Drögemüller that has led to the name of this phene being changed from "Coat colour, diluted" to "Coat colour, dilution, MLPH-related". At the same time, a new phene "Coat colour, dilution, generic" was created.
Molecular basis: Kosovsky et al. (2023) "nucleotide sequences of the melanophilin gene were compared in two groups of ferrets—silver-colored and wild-type animals—using sequencing of 16 exons. In carriers of silver color, [an inversion of two nucleotides and] a single nucleotide deletion was detected in the 9th exon, leading to a shift in the reading frame and the formation of a stop codon down-stream [p.(S327Tfs*46)]."
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| MLPH | melanophilin | Mustela putorius furo | NW_025422021.1 (33608782..33565691) | MLPH | Homologene, Ensembl , NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1683 | Coat colour, silver | MLPH | deletion, small (<=20) | Naturally occurring variant | p.(S327Tfs*46) | an inversion of two nucleotides and a single nucleotide deletion in the 9th exon of MLPH | 2023 | 38189891 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000031-9669: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2023 | Kosovsky, G.Y., Glazko, V.I., Abramov, O.I., Glazko, T.T. : |
| Melanophilin polymorphism in ferrets of different color. Dokl Biochem Biophys 513:S12-S17, 2023. Pubmed reference: 38189891. DOI: 10.1134/S1607672923700655. |
Edit History
- Created by Imke Tammen2 on 09 Apr 2024
- Changed by Imke Tammen2 on 09 Apr 2024