OMIA 000975-9685 : Tail, short in Felis catus

In other species: dog , cattle , sheep

Possibly relevant human trait(s) and/or gene(s) (MIM number): 601397

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 (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 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, Manx, Pixie-Bob.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
T T, brachyury homolog (mouse) Felis catus B2 NC_018727.3 (152027397..152018641) T Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Tail, short T deletion, small (<=20) c.1169delC 2013 23949773
Tail, short T deletion, small (<=20) c.1199delC 2013 23949773
Tail, short T deletion, small (<=20) c.998delT 2013 23949773
Tail, short T indel, small (<=20) c.998_1014dup17delGCC 2013 23949773

References


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. :
Sur une chatte anoure de l'lle de Man. Ann. de la Soc. d'Agric. el Indus. de Lyon 7:41-50, 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.
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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  • Created by Frank Nicholas on 22 Aug 2013
  • Changed by Frank Nicholas on 22 Aug 2013