In other species: horse

Categories: Nervous system phene

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive lethal

Considered a defect: yes

Key variant known: no

History: This disorder was first reported by Yaeger et al. (2000).

Inheritance: Yaeger et al. (2000) provided convincing evidence of autosomal recessive inheritance.

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

Clinical features: Yaeger et al. (2000) summarised the diagnostic criteria as: "a) early age of onset (3–4 weeks of age), b) characteristic clinical signs (pups exhibit crooked necks and carry heads low, stiffened posture, and staggering gait; appear blind; begin to cry, often incessantly; lose muscle tone and the ability to stand), c) progression to recumbency by 5–6 weeks of age, d) multiple pups generally affected in each litter, e) identification of swollen astrocytes primarily in the cerebellar and cerebrocortical white matter and white matter tracts of the brainstem, f) identification of increased numbers of GFAP-stained astrocyte cytoplasmic processes (this lesion is most readily visualized in the cortical white matter and granular layer of the cerebellum), and g) exclusion of other disease processes."

Breed: Gordon Setter (Dog) (VBO_0200613).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below