OMIA 000716-9913 : Neurofibromatosis in Bos taurus

In other species: teleost fishes

Possibly relevant human trait(s) and/or gene(s) (MIM number): 162200

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: The occurrence of tumours at multiple sites of the brachial plexus, intercostal nerves and cardiac nerves; and, to a lesser extent, in retroserosal areas of the thorax and abdomen, in nerves to the skeletal muscles, and in roots and ganglia of spinal nerves.

Species-specific description: This disorder in cattle appears to be a good animal model for neurofibromatosis type 1 (NF1) in humans, which is an autosomal dominant disorder due to mutations in a gene also called NF1. However, at this stage there is insufficient evidence in cattle to justify a conclusion of single-locus inheritance, and, despite some tantalising evidence presented by Sartin et al. (1994), showing apparent co-segregation of clinical signs with an RFLP at the bovine NF1 locus (using several human NF1 cDNA clones in Southern analysis), it is still too early to claim that bovine neurofibromatosis is caused by mutations at the bovine NF1 locus (Sartin et al., 1994).

Associated genes:

Symbol Description Species Chr Location OMIA gene details page Other Links
NF1 neurofibromin 1 Bos taurus 19 NC_037346.1 (18873847..18763113) NF1 Homologene, Ensembl, NCBI gene
NF1 neurofibromin 1 Bos taurus - no genomic information (-..-) NF1 Homologene, Ensembl, NCBI gene


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.
1994 Riccardi, V.M., Womack, J.E., Jacks, T. :
Neurofibromatosis and related tumors - Natural occurrence and animal models American Journal of Pathology 145:994-1000, 1994. Pubmed reference: 7977656.
Sartin, E.A., Doran, S.E., Riddell, M.G., Herrera, G.A., Tennyson, G.S., Dandrea, G., Whitley, R.D., Collins, F.S. :
Characterization of naturally occurring cutaneous neurofibromatosis in Holstein cattle - A disorder resembling neurofibromatosis type 1 in humans American Journal of Pathology 145:1168-1174, 1994. Pubmed reference: 7977647.
1976 Slanina, L., Konrad, V., Vajda, V., Lojda, L., Zibrin, M., Skarda, R., Bajova, V., Lehocky, J., Sokol, J., Madar, J. :
Mass outbreak of congenital cutaneous neurofibromatosis in calves Veterinarstvi 26:245-249, 1976.

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  • Created by Frank Nicholas on 06 Sep 2005