Pit Bull Terrier

NCL-A - Cerebellar Ataxia

Nervous system degeneration

Description: Cerebellum degeneration with neuronal ceroid lipofuscinosis leading to nervous system disorders.

Symptoms : "Wobbly" gait, tremors, incoordination, loss of balance. At the final stage, the dog is unable to move and euthanasia is generally practiced

Age of onset : Between 3 and 5 years old

Frequency : -

Gene involved : ARSG

Tested mutation : c.296G>A

Transmission : Autosomal Recessive

Patent : ANTAGENE Worldwide License

Notes :

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Pit Bull Terrier

HUU - Hyperuricosuria

Predisposition to urate bladder stones

Description: Metabolic disorder resulting in elevated levels of uric acid in blood and urine. This trait predisposes dogs to form urate bladder stones

Symptoms : Difficulty urinating, blood in urine, urinary incontinence, abdominal pain. Some complications are possible: acute kidney failure, urinary tract infection, or rupture of bladder

Age of onset : Between 3 and 6 years old

Frequency :

Gene involved : SLC2A9

Tested mutation : c.616G>T

Transmission : Autosomal Recessive

Patent : _

Notes : Predisposition to urate bladder stones caused by this mutation is variable according to breeds. Most of homozygous mutated dogs never show symptoms.

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