GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00002291
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
WT
Trait State in Taxon B
Bob tail in Manx cats ; dominant ; recessive embryonic lethal
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
domestic cat
Synonyms
Felis domesticus; Felis silvestris catus; domestic cat; cat; cats; Felis catus Linnaeus, 1758; Korat cats L.
Rank
species
Lineage
Show more ... thostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Feliformia; Felidae; Felinae; Felis
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
domestic cat
Synonyms
Felis domesticus; Felis silvestris catus; domestic cat; cat; cats; Felis catus Linnaeus, 1758; Korat cats L.
Rank
species
Lineage
Show more ... thostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Carnivora; Feliformia; Felidae; Felinae; Felis
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
Tbxt
Synonyms
Lr; T1; Bra; Low; Tl2; Tl3; cou; Tbxt; me75; D17Mit170; T
Sequence Similarities
-
GO - Biological Process
GO:0009653 : anatomical structure morphogenesis ... show more
UniProtKB
Mus musculus
GenebankID or UniProtKB
Presumptive Null
Yes
Molecular Type
Aberration Type
Deletion Size
1-9 bp
Molecular Details of the Mutation
c.1199delC
Experimental Evidence
Authors
Buckingham KJ; McMillin MJ; Brassil MM; Shively KM; Magnaye KM; Cortes A; Weinmann AS; Lyons LA; et al. ... show more
Abstract
Most mammals possess a tail, humans and the Great Apes being notable exceptions. One approach to understanding the mechanisms and evolutionary forces influencing development of a tail is to identify the genetic factors that influence extreme tail length variation within a species. In mice, the Tailless locus has proven to be complex, with evidence of multiple different genes and mutations with pleiotropic effects on tail length, fertility, embryogenesis, male transmission ratio, and meiotic recombination. Five cat breeds have abnormal tail length phenotypes: the American Bobtail, the Manx, the Pixie-Bob, the Kurilian Bobtail, and the Japanese Bobtail. We sequenced the T gene in several independent lineages of Manx cats from both the US and the Isle of Man and identified three 1-bp deletions and one duplication/deletion, each predicted to cause a frameshift that leads to premature termination and truncation of the carboxy terminal end of the Brachyury protein. Ninety-five percent of Manx cats with short-tail phenotypes were heterozygous for T mutations, mutant alleles appeared to be largely lineage-specific, and a maximum LOD score of 6.21 with T was obtained at a recombination fraction (Θ) of 0.00. One mutant T allele was shared with American Bobtails and Pixie-Bobs; both breeds developed more recently in the US. The ability of mutant Brachyury protein to activate transcription of a downstream target was substantially lower than wild-type protein. Collectively, these results suggest that haploinsufficiency of Brachyury is one mechanism underlying variable tail length in domesticated cats.
Additional References
RELATED GEPHE
Related Genes
Related Haplotypes
3
EXTERNAL LINKS
COMMENTS
@HeterozygoteAdvantage @AllelicSeries @Parallelism https://omia.org/OMIA000975/9685/
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