OMIA:000031-9685 : Coat colour, dilution, MLPH-related in Felis catus (domestic cat) |
In other species: dog , domestic ferret , taurine cattle , sheep , rabbit , American mink
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 609227 (trait) , 606526 (gene)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: no
Key variant known: yes
Year key variant first reported: 2006
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: Ishida et al. (2006): frameshift single-base deletion in MLPH: c.83delT
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| MLPH | melanophilin | Felis catus | C1 | NC_058375.1 (218193106..218236641) | 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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 495 | Coat colour, dilute | MLPH | d | deletion, small (<=20) | Naturally occurring variant | Felis_catus_9.0 | C1 | g.219396820del | c.83del | p.(L28Rfs*12) | XM_023257818.1:c.83delT | rs5334475121 | 2006 | 16860533 | The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770) |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000031-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2022 | Anderson, H., Davison, S., Lytle, K.M., Honkanen, L., Freyer, J., Mathlin, J., Kyöstilä, K., Inman, L., Louviere, A., Chodroff Foran, R., Forman, O.P., Lohi, H., Donner, J. : |
| Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats. PLoS Genet 18:e1009804, 2022. Pubmed reference: 35709088. DOI: 10.1371/journal.pgen.1009804. | |
| 2021 | Rodney, A.R., Buckley, R.M., Fulton, R.S., Fronick, C., Richmond, T., Helps, C.R., Pantke, P., Trent, D.J., Vernau, K.M., Munday, J.S., Lewin, A.C., Middleton, R., Lyons, L.A., Warren, W.C. : |
| A domestic cat whole exome sequencing resource for trait discovery. Sci Rep 11:7159, 2021. Pubmed reference: 33785770. DOI: 10.1038/s41598-021-86200-7. | |
| 2006 | Ishida, Y., David, V.A., Eizirik, E., Schäffer, A.A., Neelam, B.A., Roelke, M.E., Hannah, S.S., O'brien, S.J., Menotti-Raymond, M. : |
| A homozygous single-base deletion in MLPH causes the dilute coat color phenotype in the domestic cat. Genomics 88:698-705, 2006. Pubmed reference: 16860533. DOI: 10.1016/j.ygeno.2006.06.006. | |
| 2000 | Christensen, A.C. : |
| Cats as an aid to teaching genetics. Genetics 155:999-1004, 2000. Pubmed reference: 10880464. DOI: 10.1093/genetics/155.3.999. | |
| 1987 | Robinson, R. : |
| Mutant gene frequencies in cats of the greater London area. Theor Appl Genet 74:579-83, 1987. Pubmed reference: 24240212. DOI: 10.1007/BF00288855. | |
| Wagner, A., Wolsan, M. : | |
| Pelage mutant allele frequencies in domestic cat populations of Poland. J Hered 78:197-200, 1987. Pubmed reference: 3611716. DOI: 10.1093/oxfordjournals.jhered.a110356. | |
| 1981 | Prieur, D.J., Collier, L.L. : |
| Morphologic basis of inherited coat-colour dilutions of cats J Hered 72:178-82, 1981. Pubmed reference: 7276525. DOI: 10.1093/oxfordjournals.jhered.a109468. | |
| 1969 | Robinson, R., Silson, M. : |
| Mutant gene frequencies in cats of Southern England. Theor Appl Genet 39:326-9, 1969. Pubmed reference: 24435560. DOI: 10.1007/BF00281914. |
Edit History
- Created by Frank Nicholas on 13 Sep 2018
- Changed by Imke Tammen2 on 21 Jun 2024