OMIA:000424-9940 : Goitre, familial in Ovis aries (sheep)

In other species: chicken , dog , American black bear , domestic cat , pig , taurine cattle , goat , golden hamster , bongo , water buffalo

Categories: Endocrine / exocrine gland phene (incl mammary gland)

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 274700 (trait) , 188450 (gene)

Links to MONDO diseases:

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Cross-species summary: Goitre is the enlargement of the thyroid gland, causing a swelling in the front of the neck. The condition can develop due to nutritional iodine deficiencies but familial forms of this disorder have been identified in several species. The molecular basis been determined for familial goitre in cattle and goats. Also spelt goiter.

Species-specific description: Mayo and Mulhearn (1969) provided extensive evidence supporting autosomal recessive inheritance of this disorder in South Australian merinos. Normal thyroglobulin is absent from affected sheep, but seems to be replaced by thyroglobulin-like, albumin-like and immunoglobulin-like iodoproteins, with the latter two most probably arising from outside the thyroid gland (Dolling and Good, 1976).

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Clinical features: The following details are taken from Mayo and Mulhearn (1969). Both lobes of the thyroid gland are enlarged and ovoid, usually in the range 1" to 3" (2.5 cm to 7.6cm) along their longest axes.. Other abnormalities often occur: the area surrounding the nostrils is flattened dorso-ventrally, and the transverse folds of skin ("nose wrinkle") over the nasal bones and immediately behind the nostrils are very pronounced and harsh; ears are oedematous and tend to flop, thereby giving greater prominence to the poll; carpal joints are swollen, and legs, particularly the forelegs, are bowed either inwards or outwards, resulting in oblique plantar surfaces of the hooves; some animals are low at the withers Affected lambs are generally very weak, and are often highly sensitive to the effects of harsher environmenents. Mortality is very high in the first year of life. Wool seems to be normal, except for birthcoats, which tend to be "silky" (lustrous). On post-mortem, the weight of thyroid gland varies from greater than 5 g up to 222 g, compared with a maximum of less than 5 g in normal sheep.

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2012). OMIA:000424-9940: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

1997 Henze, P., Moreno, J.C., Wohlsein, P., Engelke, A. :
Congenital goitre in lambs in northern germany [German] Tierarztliche Umschau 52:339-343, 1997.
1990 Nasseri, A.A., Prasad, M.C. :
Pathology of Female Reproductive Organs in Hypothyroidism in Sheep Indian Veterinary Journal 67:111 only, 1990.
1976 Dolling, C.E., Good, B.F. :
Congenital goitre in sheep: isolation of the iodoproteins which replace thyroglobulin Journal of Endocrinology 71:179-192, 1976. Pubmed reference: 827597.
1968 Rac, R., Hill, G.N., Pain, R.W., Hulhearn, C.J. :
Congenital goitre in Merino sheep due to an inherited defect in the biosynthesis of thyroid hormone Research in Veterinary Science 9:209-223, 1968. Pubmed reference: 4172541.
1966 Falconer, I.R. :
Studies of the congenitally goitrous sheep. The iodinated compounds of serum, and circulating TSH Biochemical Journal 100:190-196, 1966. Pubmed reference: 4164863.
Falconer, I.R. :
Studies of the congenitally goitrous sheep. Composition and metabolism of goitrous thyroid tissue Biochemical Journal 100:197-203, 1966. Pubmed reference: 6007447.

Edit History

  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 21 May 2012