OMIA 000031-9685 : Coat colour, dilution, MLPH-related in Felis catus

In other species: dog , cattle , rabbit , American mink , sheep

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 609227 (trait) , 606526 (gene)

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

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

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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)

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.
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.

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  • Created by Frank Nicholas on 13 Sep 2018