Gephebase

Gephebase Search Results

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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Your research retrieved 14 results.

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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
B4GALT7	Body size (dwarfism)	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Association Mapping	Leegwater PA; Vos-Loohuis M; Ducro BJ ; et al. (2016) Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7.	GP00002151	B4GALT7 Q9UBV7	Morphology	g.3,772,591C>T ; c.50G>A ; p.R17K ; last nucleotide of exon 1 and leads to a splicing deficiency of B4GALT7 transcripts ; All 29 dwarfs of which DNA was available were homozygous for the mutation . . . the 8 obligate carriers were heterozygous	Equus caballus horse - (species)	Equus caballus horse - (species) D	B4GALT7	Equus caballus horse - (species)	Published - Accepted by Curator
GH	Body size (dwarfism)	Coding, SNP	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	McCormack BL; Chase CC; Olson TA ; et al. (2009) A miniature condition in Brahman cattle is associated with a single nucleotide mutation within the g[...]	GP00002037	GH1 P01241	Morphology	g.48768780C>T c.593C>T p.T198M	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	GH	Bos taurus cattle - (species)	Published - Accepted by Curator
Growth Hormone Receptor (GHR)	Body size (dwarfism)	Coding, Deletion N	Gallus gallus chicken - (species) D	Domesticated	Association Mapping	Agarwal SK; Cogburn LA; Burnside J (1994) Dysfunctional growth hormone receptor in a strain of sex-linked dwarf chicken: evidence for a mutati[...]	GP00002189	GHR P10912	Morphology	deletion of 1773 bp in the 3' end of the coding region N	Gallus gallus chicken - (species)	Gallus gallus chicken - (species) D	Growth Hormone Receptor (GHR)	Gallus gallus chicken - (species)	Published - Accepted by Curator
HMGA2	Body size (dwarfism) Cranio-facial morphology	Coding, Deletion N	Oryctolagus cuniculus rabbit - (species) D	Domesticated	Association Mapping	Carneiro M; Hu D; Archer J ; et al. (2017) Dwarfism and Altered Craniofacial Development in Rabbits Is Caused by a 12.1 kb Deletion at the HMGA[...]	GP00001675	HMGA2 P52926	Morphology Morphology	deletion of 12.1 kb overlapping the promoter region and first three exons leading to inactivation of the gene. The 5'-end of this deletion overlaps a CSINE2 element N	Oryctolagus cuniculus rabbit - (species)	Oryctolagus cuniculus rabbit - (species) D	HMGA2	Oryctolagus cuniculus rabbit - (species)	Published - Accepted by Curator
PRKG2	Body size (dwarfism)	Coding, SNP N	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Koltes JE; Mishra BP; Kumar D ; et al. (2009) A nonsense mutation in cGMP-dependent type II protein kinase (PRKG2) causes dwarfism in American Ang[...]	GP00002273	PRKG2 Q13237	Morphology	c.1573C>T p.R525* N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	PRKG2	Bos taurus cattle - (species)	Published - Accepted by Curator
PRKG2	Body size (dwarfism)	Coding, SNP N	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Koltes JE; Mishra BP; Kumar D ; et al. (2009) A nonsense mutation in cGMP-dependent type II protein kinase (PRKG2) causes dwarfism in American Ang[...]	GP00002274	PRKG2 Q13237	Morphology	c.2032C>T p.R678* N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	PRKG2	Bos taurus cattle - (species)	Published - Accepted by Curator
RNF11	Body size (dwarfism)	Cis-regulatory, Deletion	Bos taurus cattle - (species) D	Domesticated	Association Mapping	Sartelet A; Druet T; Michaux C ; et al. (2012) A splice site variant in the bovine RNF11 gene compromises growth and regulation of the inflammatory[...]	GP00002275	RNF11 Q9Y3C5	Morphology	g.95601696A>G c.124-2A>G affecting splicing site	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	RNF11	Bos taurus cattle - (species)	Published - Accepted by Curator
TMEM263	Body size (dwarfism)	Coding, SNP N	Gallus gallus chicken - (species) D	Domesticated	Linkage Mapping	Wu Z; Derks MFL; Dibbits B ; et al. (2018) A Novel Loss-of-Function Variant in Transmembrane Protein 263 (TMEM263) of Autosomal Dwarfism in Chi[...]	GP00002161		Physiology	g.53688583C>T c.433G>A p.Trp59∗ N	Gallus gallus chicken - (species)	Gallus gallus chicken - (species) D	TMEM263	Gallus gallus chicken - (species)	Published - Accepted by Curator