OMIA:000031-9685 : Coat colour, dilution, MLPH-related in Felis catus
In other species: dog , cattle , rabbit , American mink , sheep
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
Mode of inheritance: Autosomal recessive
Considered a defect: 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
|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|
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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|
|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||2006||16860533||The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770)|
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.
|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 .|
|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 .|
|1981||Prieur, D.J., Collier, L.L. :|
|Morphologic basis of inherited coat-colour dilutions of cats Journal of Heredity 72:178-182, 1981. Pubmed reference: 7276525 .|
|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.|
- Created by Frank Nicholas on 13 Sep 2018