GEPHE SUMMARY Print
Entry Status
Published
GepheID
GP00002218
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Italian Trotter
Trait State in Taxon B
Italian Trotter - white
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
horse
Synonyms
Equus przewalskii f. caballus; Equus przewalskii forma caballus; horse; domestic horse; equine; Equus caballus Linnaeus, 1758
Rank
species
Lineage
Show more ... rata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Perissodactyla; Equidae; Equus; Equus
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
horse
Synonyms
Equus przewalskii f. caballus; Equus przewalskii forma caballus; horse; domestic horse; equine; Equus caballus Linnaeus, 1758
Rank
species
Lineage
Show more ... rata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Perissodactyla; Equidae; Equus; Equus
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
Kit
Synonyms
W; Bs; Fdc; Ssm; SCO1; SCO5; SOW3; CD117; c-KIT; Tr-kit; Gsfsco1; Gsfsco5; Gsfsow3; Sl
Sequence Similarities
Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.
GO - Biological Process
GO:0043066 : negative regulation of apoptotic process ... show more
UniProtKB
Mus musculus
GenebankID or UniProtKB
Presumptive Null
No
Molecular Type
Aberration Type
Deletion Size
-
Molecular Details of the Mutation
g.77736559C>T (putative splicing mutation)
Experimental Evidence
Authors
Capomaccio S; Milanesi M; Nocelli C; Giontella A; Verini-Supplizi A; Branca M; Silvestrelli M; Cappelli K
Abstract
-
Additional References
EXTERNAL LINKS
COMMENTS
@AllelicSeries @Splicing https://omia.org/OMIA000209/9796/
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