OMIA:000975-9685 : Tail, short in Felis catus
In other species: dog , cattle , sheep , Asiatic golden cat
Categories: Limbs / digit / tail phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 601397 (gene) , 615709 (trait) , 182940 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal dominant
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2013
Cross-species summary: Also called brachyury
Species-specific name: Manx tailllessness
History: The taillessness of Manx cats was mentioned in both volumes of Darwin's (1968) "The Variation of Animals and Plants under Domestication". The vol. II entry cites data from a Dr Wilson, which (intriguingly) is not consistent with autosomal dominance and lethal recessiveness: "The Manx cat is tailless and has long hind legs; Dr. Wilson crossed a male Manx with common cats, and, out of twenty-three kittens, seventeen were destitute of tails; but when the female Manx was crossed by common male cats all the kittens had tails, though they were generally short and imperfect." The reliability of these data are uncertain.
Nine years after the rediscovery of Mendelism, Bateson (1909) listed Manx taillessness as a Mendelian trait, citing Anthony (1899; Bull. Soc. Anthr., Paris), Hind (1899), Kennel (1901) and Davenport (1905).
In describing the variation in the number of vertebrae affected, Todd (1964; J. Hered) cited Anthony (1899; Bull. Soc. Anthr.), Kennel (1901), Schwangart and Grau (1931) and Tacke (1936).
Inheritance: In a report arising from his undergraduate honours project, Todd (1961) documented substantial evidence consistent with Manx tailllessness being an autosomal dominant trait that is lethal when homozygous. The data came from his own observations, and those of Dr Wilson (as quoted by Darwin (1868), Anthony (1899; Bull. Soc. Anthr.), Kennel (1901) and Davenport (1905). Two years later, it appears that Todd (1963) had become aware of earlier evidence published by Suomalainen (1956).
Mapping: After identifying the four causal mutants in the T gene (now called TBXT; see Molecular basis section), Buckingham et al. (2013) conducted a linkage analysis between the T gene and the short-tail trait, and showed zero recombination.
Molecular basis: Following the comparative candidate gene strategy, based on similar phenotypes in mice and dogs known to be due to mutations in the T gene (now called TBXT) that encodes Brachyury (a transcription factor which regulates notochord differentiation), Buckingham et al. (2013) characterised and "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 [c.998delT; c.1169delC; c.1199delC] and one duplication/deletion [c.998_1014dup17delGCC], each predicted to cause a frameshift that leads to premature termination and truncation of the carboxy terminal end of the Brachyury protein". Buckingham et al. (2013) went on to report "No evidence suggested that the presence of a specific mutant allele of T determined the extent of tail length reduction in the Manx cat . . . no cats were homozygous or compound heterozygous for mutations in T, supporting complete absence of Brachyury results in early embryonic lethality. Genotyping of three fetal cats that died late in gestation found that in all three instances, these individuals were heterozygous for mutant T alleles."
Clinical features: As summarised by Buckingham et al. (2013), "The variable tail length of the Manx recapitulates that of tail variation in mice and can be categorized into four specific tail-length phenotypes. These range from absence of the tail (anury) (i.e., rumpy), a minimal tail (i.e., rumpy-riser) that is apparent only by palpation, a short tail (i.e., stumpy), to a full tail (i.e., longie) . . . (Howell and Siegel 1963; Robinson 1993; Todd 1963). The length of the tail is proportional to the number of caudal vertebrae, with complete absence of caudal vertebrae found only in cats with the rumpy phenotype."
Breeds: American Bobtail (Cat) (VBO_0100003), Manx (Cat) (VBO_0100156), Pixiebob (Cat) (VBO_0100191).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|T||T, brachyury homolog (mouse)||Felis catus||B2||NC_058372.1 (148715064..148706296)||T||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|525||Tail, short||T||deletion, small (<=20)||Naturally occurring variant||Felis_catus_9.0||B2||g.152019395del||c.1196del||p.(P399Rfs*26)||XM_003986708.3; XP_003986757.2; published as c.1199delC and p.(P400Rfs*26); coordinates in the table have been updated to a recent reference genome and / or transcript and in accordance with HGVS 3'-rule||2013||23949773||Genomic position in Felis_catus_9.0 is based on information provided by Leslie Lyons and Reuben Buckley.|
|524||Tail, short||T||deletion, small (<=20)||Naturally occurring variant||Felis_catus_9.0||B2||g.152019424del||c.1166del||p.(P389Rfs*36)||XM_003986708.3; XP_003986757.2; published as c.1169delC and p.(P390Rfs*36); coordinates in the table have been updated to a recent reference genome and / or transcript and in accordance with HGVS 3'-rule||2013||23949773||Genomic position in Felis_catus_9.0 is based on information provided by Leslie Lyons and Reuben Buckley.|
|523||Tail, short||T||deletion, small (<=20)||Naturally occurring variant||Felis_catus_9.0||B2||g.152021379del||c.995delT||p.(L332Pfs*22)||XM_003986708.3; XP_003986757.2; published as c.998delT and p.(L333Pfs*22); coordinates in the table have been updated to a recent reference genome and / or transcript||2013||23949773||Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.|
|623||Tail, short||T||delins, small (<=20)||Naturally occurring variant||Felis_catus_9.0||B2||g.[152021360_152021362del;152021363_152021379dup]||c.[995_1011dup;1011_1014del]||p.(A338Sfs*21)||XM_003986708.3; XP_003986757.2; published as c.998_1014dup17delGCC and p.(A339Sfs*21); coordinates in the table have been updated to a recent reference genome and / or transcript||2013||23949773||Genomic position in Felis_catus_9.0 is based on information provided by Leslie Lyons and Reuben Buckley.|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2013||Buckingham, K.J., McMillin, M.J., Brassil, M.M., Shively, K.M., Magnaye, K.M., Cortes, A., Weinmann, A.S., Lyons, L.A., Bamshad, M.J. :|
|Multiple mutant T alleles cause haploinsufficiency of Brachyury and short tails in Manx cats. Mamm Genome 24:400-8, 2013. Pubmed reference: 23949773 . DOI: 10.1007/s00335-013-9471-1.|
|2009||Havlicek, M., Mathis, KR., Beck, JA., Allan, GS. :|
|Surgical management of vertebral malformation in a Manx cat. J Feline Med Surg 11:514-7, 2009. Pubmed reference: 19097923 . DOI: 10.1016/j.jfms.2008.11.005.|
|2002||Zhigachev, A.I., Vladimirova, M.V. :|
|Analysis of the inheritance of taillessness in the Baikuzino population of cats from Udmurtia Russian Journal of Genetics 38:1051-1053, 2002.|
|1993||Plummer, S.B., Bunch, S.E., Khoo, L.H., Spaulding, K.A., Kornegay, J.N. :|
|Tethered spinal cord and an intradural lipoma associated with a meningocele in a Manx-type cat. J Am Vet Med Assoc 203:1159-61, 1993. Pubmed reference: 8244864 .|
|Robinson, R. :|
|Expressivity of the Manx Gene in Cats Journal of Heredity 84:170-172, 1993. Pubmed reference: 8228170 .|
|1987||Green, ST., Green, FA. :|
|The Manx cat: an animal model for neural tube defects. Mater Med Pol 19:219-21, 1987. Pubmed reference: 3454827 .|
|1982||Woodside, JR., Dail, WG., McGuire, EJ., Wagner, FC. :|
|The Manx cat as an animal model for neurogenic vesical dysfunction associated with myelodysplasia: a preliminary report. J Urol 127:180-3, 1982. Pubmed reference: 7057494 .|
|1979||Basrur, P.K., Deforest, M.E. :|
|Embryological impact of the Manx gene. Carnivore Genetics Newsletter 3:378-384, 1979.|
|DeForest, ME., Basrur, PK. :|
|Malformations and the Manx syndrome in cats. Can Vet J 20:304-14, 1979. Pubmed reference: 14349892 . DOI: 10.1002/aja.1000950302.|
|1976||Bistner, SI., Aguirre, G., Shively, JN. :|
|Hereditary corneal dystrophy in the Manx cat: a preliminary report. Invest Ophthalmol 15:15-26, 1976. Pubmed reference: 1081983 .|
|1974||Leipold, H.W., Huston, K., Blauch, B., Guffy, M.M. :|
|Congenital defects of the caudal vertebral column and spinal cord in Manx cats Journal of the American Veterinary Medical Association 164:520-523, 1974. Pubmed reference: 4813411 .|
|1972||Kitchen, H., Murray, RE., Cockrell, BY. :|
|Animal model for human disease. Spina bifida, sacral dysgenesis and myelocele. Animal model: Manx cats. Am J Pathol 68:203-6, 1972. Pubmed reference: 4562793 . DOI: 10.1002/path.1710970212.|
|1971||Martin, A.H. :|
|A congenital defect in the spinal cord of the Manx cat Veterinary Pathology 8:232-238, 1971. Pubmed reference: 4950726 .|
|Tomlinson, BE. :|
|Abnormalities of the lower spine and spinal cord in Manx cats. J Clin Pathol 24:480, 1971. Pubmed reference: 5106390 .|
|1969||James, CC., Lassman, LP., Tomlinson, BE. :|
|Congenital anomalies of the lower spine and spinal cord in Manx cats. J Pathol 97:269-76, 1969. Pubmed reference: 4900931 . DOI: 10.1002/path.1710970212.|
|1966||Howell, JM., Siegel, PB. :|
|Morphological effects of the Manx factor in cats. J Hered 57:100-4, 1966. Pubmed reference: 6006809 .|
|1964||Todd, N.B. :|
|The inheritance of taillessness of Manx cats Journal of Cat Genetics 1:2-7, 1964.|
|Todd, NB. :|
|The Manx factor in domestic cats. A possible genetic basis for expressivity of taillessness and other associated anomalies J Hered 55:225-30, 1964. Pubmed reference: 14209098 .|
|1963||Howell, J.M., Siegel, P.B. :|
|Phenotypic variability of taillessness in Manx cats Journal of Heredity 54:167-169, 1963. Pubmed reference: 14057865 .|
|Todd, N.B. :|
|Independent assortment of Manx and three coat colour mutants in the domestic cat Journal of Heredity 54:266-272, 1963. Pubmed reference: 14098315 .|
|1961||Todd, N.B. :|
|The inheritance of taillessness in Manx cats Journal of Heredity 52:228-232, 1961.|
|1956||Suomalainen, E. :|
|Hännättömyyden periytymissuhteista Kissalla. Novant ‘Anni Delle Leggi Mendeliane :220-234, 1956.|
|1936||Tacke, H-G. :|
|Zum Problem der "schwanzlosen" Katzen. Zeitschr. Anal. u. Entwicklungs-gesch 106:343-369, 1936.|
|1931||Schwangart, F., Grau, H. :|
|Uber Entformung, besonders die verebbaren Schwanz missbildungen. Zucht. B. Tiersucht. u. Zuchtungsbiol 22:203-249, 1931.|
|1909||Bateson, W. :|
|Mendel’s Principles of Heredity. Cambridge University Press, London :, 1909.|
|1905||Davenport, C.B. :|
|Report on the work of the Station for Exp. Evol., Cold Spring Harbor. [Details in regards to cats] Carnegie Institute of Washington,Yearbook 4:93, 1905.|
|1901||Kennel. J. :|
|Über Eine Stummelschwänzige Hauskatze und ihre Nachkommenschaft. Zool. JB., Syst. 15:219-242, 1901.|
|1899||Anthony, R. :|
|Considerations anatomiqucs sur la region sacro-caudale d'une chatte appartenant a la race ditc anoure de l'lle de Man. Bull. Soc. Anthr., Paris 4:303-310, 1899.|
|Anthony, R. :|
|Sur une chatte anoure de l'lle de Man. Ann. de la Soc. d'Agric. el Indus. de Lyon 7:41-50, 1899.|
|1889||Hind, W. :|
|Taillessness in Manx cats. Ann. Rep. N. Staffs. Field Club :81, 1889.|
|1868||Darwin, C.R. :|
|The Variation of Animals and Plants under Domestication John Murray, London :Vol. I, p. 46; Vol II, p. 66, 1868.|
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- Changed by Frank Nicholas on 22 Aug 2013
- Changed by Frank Nicholas on 11 Jun 2020
- Changed by Imke Tammen2 on 16 Jun 2021