OMIA 001141-452646 : Tyrosinemia, type II in Neovison vison

Possibly relevant human trait(s) and/or gene(s) (MIM number): 276600

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: no

Species-specific name: Tyrosine transaminase deficiency

Molecular basis: Leib et al. (2005) sequenced cDNA and genomic DNA from the most likely functional candidate gene (tyrosine aminotransferase) in affected and normal mink, but found no differences in sequence.

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 Leib, S.R., McGuire, T.C., Prieur, D.J. :
Comparison of the tyrosine aminotransferase cDNA and genomic DNA sequences of normal mink and mink affected with tyrosinemia type II. J Hered 96:302-9, 2005. Pubmed reference: 15817712. DOI: 10.1093/jhered/esi056.
1988 Sanford, S.E. :
Ontario. Tyrosinemia II (Pseudodistemper) in Mink. Can Vet J 29:298-9, 1988. Pubmed reference: 17423010.
1986 Christensen, K., Henriksen, P., Sørensen, H. :
New forms of hereditary tyrosinemia type II in mink: hepatic tyrosine aminotransferase defect. Hereditas 104:215-22, 1986. Pubmed reference: 2876972.
1985 Goldsmith, L.A. :
Tyrosinemia II. Int J Dermatol 24:293-4, 1985. Pubmed reference: 2862113.
1983 Goldsmith, L.A. :
Tyrosinemia II: lessons in molecular pathophysiology. Pediatr Dermatol 1:25-34, 1983. Pubmed reference: 6149527.
1981 Goldsmith, L.A., Thorpe, J.M., Marsh, R.F. :
Tyrosine aminotransferase deficiency in mink (Mustela vision): a model for human tyrosinemia II. Biochem Genet 19:687-93, 1981. Pubmed reference: 6117279.
1980 Henriksen, P. :
The tyrosinemia syndrome in mink Scientifur 4:13-15, 1980.
1979 Christensen, K., Fishcher, P., Knudsen, K.E.B., Larsen, S., Sorensen, H., Venge, O. :
A syndrome of hereditary tyrosinaemia in mink (Mustela vison schreb) Canadian Journal of Comparative Medicine 43:333-340, 1979. Pubmed reference: 487250.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 09 Nov 2013