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

Categories: Homeostasis / metabolism phene

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

Links to MONDO diseases: No links.

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.


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