Basenji

bas-PRA - Progressive Retinal Atrophy

Progressive loss of vision

Description: Progressive rod-cone degeneration

Symptoms : Progressive loss of vision (at night and then in daylight) culminating in blindness. Many affected dogs maintain daylight vision for many years, sometimes for the remainder of their life

Age of onset : Between 5 and 7 years old

Frequency : Not available

Gene involved : SAG

Tested mutation : c.1216T>C

Transmission : Autosomal Recessive

Patent : -

Notes :

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Basenji

FS - Fanconi Syndrome

Kidney failure

Description: Generalized proximal tubule reabsorption deficiency

Symptoms : Nutrients loss in the urine, increased urination and excessive drinking, chronic kidney failure

Age of onset : Between 4 and 8 years old

Frequency : Not available

Gene involved : FAN1

Tested mutation : 321bp deletion

Transmission : Autosomal Recessive

Patent : -

Notes :

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Basenji

PK-A - Pyruvate Kinase Deficiency

Hemolytic anaemia

Description: Lack of the pyruvate kinase enzyme causing an early destruction of red blood cells, leading to a severe anaemia

Symptoms : Pale mucous membranes, lethargy, exercise intolerance abnormal bone density, liver failure, shortened life expectancy

Age of onset : Between 4 months and 2 years old

Frequency : Not available

Gene involved : PKLR

Tested mutation : c.433delC

Transmission : Autosomal Recessive

Patent : -

Notes :

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