OMIA 000031-9685 : Coat colour, dilute in Felis catus

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

Possibly relevant human trait(s) and/or gene(s) (MIM number): 609227

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: Also known as Coat colour, dilution

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_018730.3 (219392502..219434400) MLPH Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Coat colour, dilute MLPH deletion, small (<=20) c.83delT 2006 16860533

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.
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