GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00000351
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
Canis familiaris - various breeds
Trait State in Taxon B
Canis familiaris - various breeds
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
gray wolf
Synonyms
gray wolf; grey wolf; Canis lupus Linnaeus, 1758
Rank
species
Lineage
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rata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
Parent
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
dog
Synonyms
Canis canis; Canis domesticus; Canis familiaris; dog; dogs; Canis familiaris Linnaeus, 1758; Canis lupus familiaris Linnaeus, 1758
Rank
subspecies
Lineage
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tomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis; Canis lupus
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
FOXI3
Synonyms
-
String
Sequence Similarities
-
GO - Molecular Function
GO:0043565 : sequence-specific DNA binding
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GO - Biological Process
GO:0009653 : anatomical structure morphogenesis
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GO - Cellular Component
Presumptive Null
Molecular Type
Aberration Type
Insertion Size
1-9 bp
Molecular Details of the Mutation
Frameshift; 7-bp duplication within exon 1
Experimental Evidence
Authors
Drögemüller C; Karlsson EK; Hytönen MK; Perloski M; Dolf G; Sainio K; Lohi H; Lindblad-Toh K; et al.
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Abstract
Mexican and Peruvian hairless dogs and Chinese crested dogs are characterized by missing hair and teeth, a phenotype termed canine ectodermal dysplasia (CED). CED is inherited as a monogenic autosomal semidominant trait. With genomewide association analysis we mapped the CED mutation to a 102-kilo-base pair interval on chromosome 17. The associated interval contains a previously uncharacterized member of the forkhead box transcription factor family (FOXI3), which is specifically expressed in developing hair and teeth. Mutation analysis revealed a frameshift mutation within the FOXI3 coding sequence in hairless dogs. Thus, we have identified FOXI3 as a regulator of ectodermal development.
Additional References
RELATED GEPHE
Related Genes
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
@HeterozygoteAdvantage (homozygous embryonic lethal) https://omia.org/OMIA000323/9615/
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