OMIA 002116-69293 : Coat colour, albinism, oculocutaneous, HPS5-related in Gasterosteus aculeatus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|Hps5||Gasterosteus aculeatus||-||no genomic information (-..-)||Hps5||Ensembl|
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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.
|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, albinism, oculocutaneous, HPS5-related||Hps5||casper||insertion, small (<=20)||"casper mutants have an insertion of a single nucleotide in the 6th exon of Hsp5, predicted to generate an early frameshift"||2017||28739598|
|2017||Miller, C.T., Hart, J.C. :|
|Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype. G3 (Bethesda) :, 2017. Pubmed reference: 28739598. DOI: 10.1534/g3.117.1125.|
- Created by Frank Nicholas on 15 Aug 2017
- Changed by Frank Nicholas on 15 Aug 2017