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Gene	Trait	Mutation	Taxon B	Taxonomic Status	Evidence	Main Reference	Gephe ID	UniProtKB	Trait Category	Mutation Details	Taxon A	Taxon B	Edit Gene-GePhe	Taxon B	Status
aggrecan	Body size (dwarfism)	Coding, Insertion N	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Cavanagh JA; Tammen I; Windsor PA ; et al. (2007) Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN.	GP00002140	ACAN P16112	Morphology	2266_2267insGGCA mutation introduces a frameshift and a premature termination codon into exon 11; the frameshift occurs at amino acid position 756 ; the termination codon occurs at position 914 compared to the normal aggrecan product of 2327 amino acids N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	aggrecan	Bos taurus cattle - (species)	Published - Accepted by Curator
aggrecan	Body size (dwarfism)	Cis-regulatory, SNP N	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Cavanagh JA; Tammen I; Windsor PA ; et al. (2007) Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN.	GP00002141	ACAN P16112	Morphology	−198C>T transition predicted to introduce a new ATG start codon 199 bp upstream of the normal start codon N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	aggrecan	Bos taurus cattle - (species)	Published - Accepted by Curator
aggrecan	Body size (dwarfism)	Coding, Deletion N	Equus caballus horse - (species) D	Domesticated	Association Mapping	Eberth JE; Graves KT; MacLeod JN ; et al. (2018) Multiple alleles of ACAN associated with chondrodysplastic dwarfism in Miniature horses.	GP00002142	ACAN P16112	Morphology	g.95257458_95257500del ; p.Phe2017-Asp2023del N	Equus caballus horse - (species)	Equus caballus horse - (species) D	aggrecan	Equus caballus horse - (species)	Published - Accepted by Curator
aggrecan	Body size (dwarfism)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Metzger J; Gast AC; Schrimpf R ; et al. (2017) Whole-genome sequencing reveals a potential causal mutation for dwarfism in the Miniature Shetland p[...] 1 Additional References Eberth JE; Graves KT; MacLeod JN (2018) Multiple alleles of ACAN associated with chondrodysplastic dwarfism in Miniature horses.	GP00002143	ACAN P16112	Morphology	g.95282140C>G ; p.Ala505Pro	Equus caballus horse - (species)	Equus caballus horse - (species) D	aggrecan	Equus caballus horse - (species)	Published - Accepted by Curator
aggrecan	Body size (dwarfism)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Association Mapping	Eberth JE; Graves KT; MacLeod JN ; et al. (2018) Multiple alleles of ACAN associated with chondrodysplastic dwarfism in Miniature horses.	GP00002144	ACAN P16112	Morphology	g.95284530C>T ; p.Val424Met	Equus caballus horse - (species)	Equus caballus horse - (species) D	aggrecan	Equus caballus horse - (species)	Published - Accepted by Curator
aggrecan	Body size (dwarfism)	Coding, Deletion N	Equus caballus horse - (species) D	Domesticated	Association Mapping	Eberth JE; Graves KT; MacLeod JN ; et al. (2018) Multiple alleles of ACAN associated with chondrodysplastic dwarfism in Miniature horses.	GP00002145	ACAN P16112	Morphology	g.95291270del ; p.Lys82fs N	Equus caballus horse - (species)	Equus caballus horse - (species) D	aggrecan	Equus caballus horse - (species)	Published - Accepted by Curator

This Summary Table shows only the major fields for each entry. If you are interested in other fields (gene synonyms, GO terms, molecular details of the mutation, comments, etc.), please export the .csv file, which contains the complete data for each entry. Please click on a GepheID if you want to see all information regarding a particular entry.

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