5th International Young Scientist Congress (IYSC-2019).  International E-publication: Publish Projects, Dissertation, Theses, Books, Souvenir, Conference Proceeding with ISBN.  International E-Bulletin: Information/News regarding: Academics and Research

Genetic Diseases in Cattle: A Review

Author Affiliations

  • 1Dept. of Animal Genetics and Breeding, Nagpur Veterinary College, Maharashtra Animal and Fishery Sciences University, Nagpur, MS, INDIA
  • 2Dept. of Animal Genetics and Breeding, Nagpur Veterinary College, Maharashtra Animal and Fishery Sciences University, Nagpur, MS, INDIA
  • 3Dept. of Animal Genetics and Breeding, Nagpur Veterinary College, Maharashtra Animal and Fishery Sciences University, Nagpur, MS, INDIA

Res. J. Animal, Veterinary and Fishery Sci., Volume 2, Issue (2), Pages 24-33, February,24 (2014)


Genetic disease is an illness caused by inborn abnormalities in genes or chromosomes, which are quite rare. The genetic diseases in dairy and beef cattle are tissue specific viz; Skeletal, central nervous system, blood, skin, muscle and ophthalmic. Some genetic diseases like Bovine leukocyte adhesion deficiency (BLAD) are breed specific and affecting significantly on economics of dairy farming. The various scientists had reported the frequency as 3.33% and 4.0% in Iranian Holstein-Friesian and Chinese Holstein cattle respectively. However, in India BLAD carrier was estimated as 3.23% in pure and crossbred Holstein-Friesian only. The details of these genetic diseases with special reference to its definition, genetic cause (DNA mutation) and its clinical symptoms are discussed in the review. In the modern era of animal breeding, Veterinary doctors, animal scientists, cattle breeders and livestock stakeholders should have the awareness of genetic diseases and their implications. The DNA testing is currently available for some of the genetic diseases; however it is necessary to develop it for all the genetic diseases so that breeding sires can be effectively screened for undesirable alleles and culled to avoid further propagation in breeding population. The information in the review can aid in investigating, reporting, treating and suggesting strategies for elimination of undesirable genes from breeding population.


  1. Schalles R. R. and Leipold H. W., Congenital Defects inCattle, Cattle Producers Handbook, Genetics Section.,Third Edition, 1026 (2012)
  2. Meydan H., Yildiz M. A. and Agerholm J. S., Screening forbovine leukocyte adhesion deficiency, deficiency of uridinemonophosphate synthase, complex vertebral malformation,bovine citrullinaemia and factor XI deficiency in Holsteincows reared in Turkey, Acta Vet Scand., 52, 56 (2010)
  3. Wurster F., Bassuino D. M., Juffo G. D., Boos G.S., Boabaid F. M., Antoniassi N. A. B. and Driemeier D., Condrodisplasia tipo Dexter em fetos bovinos abortados, Acta Scientiae Veterinariae., 40(3), 1060 (2012)
  4. Huston K., Saperstein G., Steffen D., Millar P. andLauvergne J.J., Clinical, pathological and other visible traitsloci except coat colour (category 2) In: Millar P, LauvergneJJ, Dolling C (eds.). Mendelian inheritance in cattle, 101,Wageningen Pers, Wageningen (2000)
  5. VanRaden P. M., Olson K. M., Null D. J. and Hutchison J.L., Harmful recessive effects on ertility detected by absenceof homozygous haplotypes, Journal of Dairy Science., 94,6153-6161 (2011)
  6. Thomsen B., Horn P., Panitz F., Bendixen E.and Petersen A. H., A missense mutation in the bovineSLC35A3 gene, encoding a UDP-N-acetylglucosaminetransporter, causes complex vertebral malformation., Genome Research 16(1), 97–105 (2006)
  7. Thomsen Bo., Horn P., Panitz F., Bendixen E., PetersenA. H., Holm L. E., Nielsen V. H., Agerholm J. S.,Arnbjerg J. and Bendixen C., A missense mutation in thebovine SLC35A3 gene, encoding a UDP- Nacetylglucosaminetransporter, causes complex vertebralmalformation, Genome Research., 16(1), 97–105 (2011)
  8. Gábor M., Martina M., Anna T., Zuzana R., Candrák J. andKlára V., Detection of Complex Vertebral MalformationCarriers In Slovak Holstein Cattle by High ResolutionMelting Analysis, Acta Veterinaria (Beograd)., 62, 239-248(2012)
  9. Ghanem M. E., Akita M., Suzuki T., Kasuga A. andNishibori M., Complex vertebral malformation in Holsteincows in Japan and its inheritance to crossbred F1generation, Animal Reproduction Science., 103, (3–4), 348–354 (2008)
  10. Berglund B., Persson A. and Stålhammar H., Effects ofComplex Vertebral Malformation on Fertility in SwedishHolstein Cattle, Acta vet. Scand., 45, 161-165 (2004)
  11. Schütz E., Scharfenstein M., and Brenig B., Implication ofComplex Vertebral Malformation and BovineLeukocyte Adhesion Deficiency DNA-Based Testing onDisease Frequency in the Holstein Population, Journal ofDairy Science., 91(12), 4854–4859 (2008)
  12. Denholm L. J. and Cole W. G., Heritable bone fragility,joint laxity and dysplastic dentin in Friesian calves: abovine syndrome of osteogenesis imperfecta, Aust Vet J.,60, 9–17 (1983)
  13. Jensen P. T., Rasmussen P. G. and Basse A., Congenitalosteogenesis imperfecta in Charolais cattle, Nord Vet-Med.,28, 304–8 (1976)
  14. Citek J., Rehout V. and Hajkova J., Congenital disorders inthe cattle population of the Czech Republic, Czech J. Anim.Sci., 54(2), 55–64 (2009)
  15. Meyers S. N., McDaneld T. G., Swist S. L., Marron B. M.,Steffen D. J., Toole D. O., O, A deletion mutation inbovine SLC4A2 is associated with osteopetrosis in RedAngus cattle, BMC Genomics., 11, 337 (2010)
  16. O’Toole D., Swist S., Steadman L. and Johnson G. C., Neuropathology and craniofacial lesions of osteopetroticRed Angus Calves, Veterinary Pathology., 544-2217 (2011)
  17. Drogemuller C., Leeb T., Harlizius B., Tammen I. and DistlO., Congenital syndactyly in cattle: four novelmutations in low density lipoprotein receptor related proteinand gene (LRP4), BMC Genetics, 8.5 (2007)
  18. Duchesne A., Gaulier M., Chadi S., Grohs C. and Floriot S., Identification of a double missense substitution in thebovine LRP4 gene as a candidate causal mutation forsyndactyly in Holstein cattle, Genomics., 88, 610.621(2006)
  19. Hart-Elcock L., Leipold H. W. and Baker R., Hereditarybovine syndactyly: diagnosis in bovine fetuses, Vet Pathol.,24, 140–7 (1987)
  20. Matthew M.C., Euisoo K., Derek B., Daniel N., Tabatha C.,John C., George W., Paolo A.-M., Licia C., Enrico S.,George E. L. and Steve S., Fine Mapping for WeaverSyndrome in Brown Swiss Cattle and the Identification of41 Concordant Mutations across NRCAM, PNPLA8 andCTTNBP2, PLOS ONE., 8(3), 59251 (2013)
  21. Agerholm J., Congenital generalized epidermolysis bullosain a calf, Journal of Veterinary Medicine. 41, 139-142(1994)
  22. Thomsen B., Nissen P. H., Agerholm J. S. and Bendixen C., Congenital bovine spinal dysmyelination is caused by amissense mutation in the SPAST gene, Neurogenetics., 11,175-183 (2010)
  23. Hafner A., Dahme E., Obermaier G., Schmidt P. andDirksen G., Spinal dysmyelination in new-born BrownSwiss x Braunvieh calves, J Vet Med B., 40, 413–22 (1993)
  24. Joerg H., Muntwyler J., Glowatzki-Mullis M. L., AhrensE., Asai-Coakwell M. and Stranzinger G., Bovine spinalmuscular atrophy: AFG3L2 is not a positional candidategene, J Anim Breed Genet., 122(1), 103-7 (2005).
  25. Kehrli M. E. Jr., Schmalstieg F. C., Anderson D.C., Vander Maaten M. J., Hughes B. J., Ackermann M.R., Wilhelmsen C. L., Brown G. B., Stevens M. G. andWhetstone C. A., Molecular definition of the bovinegranulocytopathy syndrome: Identification of deficiency ofthe Mac-1 (CD11b/CD18) glycoprotein, Am J Vet Res., 51,18236 (1990)
  26. Nagahata H., Hatakeyama K., Izumisawa Y., NodaH., Nochi H. and Tamoto K., Two cases of Holstein calveswith bovine leukocyte adhesion deficiency (BLAD), DtschTierärztl Wochensch., 101, 53–6 (1994)
  27. Nagahata H., Bovine leukocyte adhesion deficiency(BLAD): a review, J Vet Med Sci., 66(12), 1475-82 (2004)
  28. Jianbin Li., Wang H., Zhang Y., Hou M., Zhong J. andZhang Y., Identification of BLAD and citrullinemia carriersin Chinese Holstein cattle, Animal Science Papers andReports., 29(1), 37-42 (2011)
  29. Patel R.K., Singh K.M., Soni K.J., Chauhan J.B. andSambasiva RKR., Low incidence of bovine leukocyteadhesion deficiency (BLAD) carriers in Indian cattle andbuffalo breeds, J Appl Genet., 48(2), 153-5 (2007)
  30. Roy A., Kotikalapudi R., Patel R. K., Anantaneni R.and Katragadda S., New Cases of Bovine LeukocyteAdhesion Deficiency (BLAD) Carriers in Indian HolsteinCattle, International Journal of Veterinary Science, 2304-3075 (2012)
  31. Levin E. Y., Uroporphyrinogen III cosynthetase in bovineerythropoietic porphyria, Science., 161(2), 907–8 (1968)
  32. Romeo G., Glenn B. L. and Levin E. Y., UroporphyrinogenIII cosynthetase in asymptomatic carriers ofcongenital erythropoietic porphyria, Biochem Genet., 4,719–26 (1970)
  33. Angerholm J. S., Thulstrup P. W., Bjerrum M. J., BendixenC. and Jorgensen C. B., A molecular study of congenitalerythropoietic porphyria in cattle, Animal Genetic., 43, 210-215 (2012)
  34. Yuzbasiyan-Gurkan V. and Bartlell E., Identification of aunique splice site variant in SLC39A4 in bovine hereditaryzinc deficiency, lethal trait A46; An animal model ofacrodermatitis enteropathica, Genomic., 88, 521-626 (2006)
  35. Gollnick N. S, Trelter J, Jung S., Majzoub M. andBettenays S., Cases of severe skin disease in the BavarianSimmental population: A variant of the bovine hereditaryzinc deficiency syndrome, World Buiatrics Congress., 285(2010)
  36. Windsor P. and Agerholm J., Inherited diseases ofAustralian Holstein-Friesian cattle, Aust Vet J., 87(5), 193-19 (2009)
  37. , , http://vetbook.org/wiki/cow/index.php/Citrullinemia (URLaccessed on 11 Sep (2013)
  38. Sun D. X., Fan X. H., Xie Y., Chu Q., Sun Y., ZhangY., Zhang S. L., Gong W. J., Chen S. H., Li Y. H., Shi W.H. and Zhang Y., Short communication: Distribution ofrecessive genetic defect carriers in Chinese Holstein, JDairy Sci., 94(11), 5695-5698 (2011)
  39. Robinson J. L., Burns J. L., Magura C. E. and Shanks R. D., Low incidence of citrullinemia Carriers among dairy cattleof the United States, J Dairy Sci., 1993 Mar; 76(3), 853-8(1993)
  40. Frey J., Chamson A., Gourreau J. M. and Gillet J. P., Collagen and lipid biosynthesis in a case of epitheliogenesisimperfecta in cattle, J Invest Dermatol., 93, 83–6 (1989)
  41. Ogino A., Shimizu K., Tanabe Y. and Morita M., De novomutation of the bovine EDA gene associated withanhydrotic ectodermal dysplacia in Japanese Black cattle, Animal Genetics., 1365-2052 (2011)
  42. Karlskov-Morlensen P., Cirera S., Nielsen O. L., ArnbjergJ. and Reibel J., Exonization of a LINE1 fragmentimplicated in X linked hypohydrotic ectodermal dysplasiain cattle, Animal Genetics., 42, 578-584 (2011)
  43. Gargani M., Valentini A. and Pariset I., A novel pointmutation within the EDA gene causes an exon dropping inmature RNA in Holstein-Friesian cattle breed affected by Xlinked anhydrotic ectodermal dysplacia, BMC VeteinaryResearch., 7, 35 (2011)
  44. Moritomo Y., Koga O. and Miyamoto H., Congenitalanophthalmia with caudal vertebral anomalies in Japanesebrown cattle, J Vet Med Sci., 57, 693–6 (1995)
  45. Ashton Barnett K. C. and Cley C. E., Congenital nuclearcataracts in cattle, Vet Rec., 100, 505–8 (1977)
  46. Williams D. L. and Barnett K. C., Bilateral optic disccolobomas and microphthalmos in a thoroughbred horse, Vet Rec.,132, 101–3 (2010)
  47. McCormack J., Typical colobomas in Charolais bulls, VetMed Small Anim Clin., 72, 1626–8 (1977)
  48. Falco M. and Barnett K. C., The inheritance of ocularcolobomata in Charolais cattle, Vet Rec., 02, 102–4 (1978)
  49. Whitlock B. K., Heritable birth defects of cattle, AppliedReproductive Strategies Conference Proceedings Nashville, TN., 146-153 (2010)
  50. O’Toole D., Swist S., Steadman L. and Johnson G. C., Neuropathology and craniofacial lesions of osteopetroticRed Angus Calves, Veterinary Pathology, 544-2217 (2011)
  51. Buitkamp J., Semmer J. and Gotz K. U., Arachnomeliasyndrome in Simmental cattle is caused by ahomozygous 2.bp deletion in the molybdenium cofactorsynthesis step 1 gene (MOCS1), BMC Genetics., 12, 11(2011)
  52. Drogemuller C., Tetens J., Sigurdsson S., Gentile A.,Testoni S., Identification of the bovineArachnomelia mutation by massively parallel sequencingimplicates Sulfite Oxidase (SUDX) in bonedevelopment, PLoS Genet., 6(8), e1001079 (2010)
  53. Denholm L., Congenital contractural arachnodactyly (fawncalf syndrome) in Angus cattle, Primefact,http://www.dpi.nsw.gov.au/__data/assets/pdf_file/0011/336944/Congenital-contractural-rachnodactyly-in-Anguscattle.pdf(2010)
  54. Splangler M. L. and Anderson D. L., Genetics defect inbeef cattle, Neb guide (University of Nebraska), http://www.ianrpubs.uni.edu/sendlt/g2055.pdf. (2011)
  55. Houweling P. J., Cavanagh J. A., Palmer D. N., Frugier T.and Michell N. L., Neuronal ceroid lipofuscinosis in DevonCattle is caused by a single base duplication (c.662dupG) inthe bovine CLN5 gene, Biochemica el Biophysica Acta.,1762, 890-897 (2006)
  56. , , http://vetbook.org/wiki/cow/index.php/Neuropathic_hydrocephalus (URL accessed on 14-12 (2013)
  57. Gentile A. and Testoni S., Inherited Disorders of Cattle: ASelected Review, Slovenian Veterinary Research., 43 (1),17-29 (2006)
  58. Jolly R. D., Wills J. L., Kenny J. E., Cahill J. I. and HoweL., Coat-colour dilution and hypotrichosis in Herefordcrossbred calves, New Zealand Veterinary Journal., 56(2),74-77 (2008)
  59. Marron B. and Bever J. E., A Mutation in Hephaestin-like 1(HEPHL1) is Responsible for Hypotrichosis in BelledGalloway Cattle, Plant and Animal Genome XXconference, January 14-18, San Diego., CA, poster P0559(2012)
  60. Sacchetto R., Testoni S., Gentile A., Damiani E., RossiM., Liguori R., Drögemüller C. and Mascarello F., Congenital Pseudomyotonia in Chianina Cattle, VeterinaryRecord., 163, 252 (2009)
  61. Testoni S., Boni P. and Gentile A., Congenitalpseudomyotonia in Chianina cattle, The Veterinary Record.,163, 252 (2008)
  62. Sartelet A., Klingbeil P., Franklin C. K., Fasquelle C.,Ge´ron S., Isacke C. M., Georges M. and Harlier C., Allelicheterogeneity of Crooked Tail Syndrome: result ofbalancing Selection, Animal Genetics., 1365-2052 (2012)
  63. Fasquelle C., Sartelet A., Li W., Dive M., TammaN., Michaux C., Druet T., Huijbers I. J., Isacke, C.M., Coppieters W., Georges M. and Charlier C., BalancingSelection of a Frameshift Mutation in the MRC2 geneAccounts for the Outbreak of the Crooked Tail Syndromein Belgian Blue Cattle, PloS Genet., 5(9), 1000666 (2009)