OMIA:000348-9913 : Epitheliogenesis imperfecta in Bos taurus (taurine cattle) |
In other species: domestic cat , pig , sheep , water buffalo
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 107600 (trait) , 600360 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: no
Cross-species summary: Congenital absence of the skin.
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2005). OMIA:000348-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2005 | Yeruhama, I., Goshen, T., Lahav, D., Perl, S. : |
| Simultaneous occurrence of epitheliogenesis imperfecta with syndactyly in a calf and a lamb. Aust Vet J 83:149-50, 2005. Pubmed reference: 15825625. | |
| 2004 | Dalir-Naghadeh, B., Seifi, HA., Farshid, AA. : |
| Congenital bovine epitheliogenesis imperfecta: a report of three cases from Iran. J Vet Med A Physiol Pathol Clin Med 51:409-12, 2004. Pubmed reference: 15610482. DOI: 10.1111/j.1439-0442.2004.00670.x. | |
| 1993 | Agerholm, J.S., Basse, A., Christensen, K. : |
| Investigations on the occurrence of hereditary diseases in the Danish cattle population 1989-1991 Acta Veterinaria Scandinavica 34:245-253, 1993. Pubmed reference: 8310897. | |
| 1989 | Frey, J., Chamson, A., Gourreau, JM., Gillet, JP. : |
| Collagen and lipid biosynthesis in a case of epitheliogenesis imperfecta in cattle. J Invest Dermatol 93:83-6, 1989. Pubmed reference: 2746007. | |
| 1987 | Fordyce, G., Holroyd, R.G., Beaman, N.J., James, T.A., Hoffman, D., Shepherd, R.K. : |
| The prevalence of epitheliogenesis imperfecta in Sahiwal cattle and their crosses in a north Queensland beef herd Australian Journal of Agricultural Research 38:427-435, 1987. | |
| 1979 | Jayasekara, MU., Leipold, HW. : |
| Epitheliogenesis imperfecta imperfecta in Shorthorn and Angus cattle. Zentralbl Veterinarmed A 26:497-501, 1979. Pubmed reference: 120661. | |
| 1973 | Leipold, HW., Mills, JH., Huston, K. : |
| Epitheliogenesis imperfecta in Holstein-Friesian calves. Can Vet J 14:114-8, 1973. Pubmed reference: 4739947. | |
| 1960 | Blokhuis, J. : |
| Epitheliogenesis imperfecta in an eight month bovine foetus Tijdschrift voor Diergeneeskunde 85:334-336, 1960. | |
| 1935 | Wipprecht, C., Horlacher, W.R. : |
| A lethal gene in Jersey cattle Journal of Heredity 26:363-368, 1935. | |
| 1934 | Hutt, F.B. : |
| Inherited lethal characters in domestic animals Cornell Veterinarian 24:1-25, 1934. | |
| 1927 | Hadley, F.B. : |
| Congenital epithelial defects of calves. Epitheliogenesis imperfecta neonatorum bovis - a recessive brought to light by inbreeding Journal of Heredity 18:487-495, 1927. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005