Equine Genetic Disease Flashcards
MYH1
IMM in QH - see lymphocytes in mm fibers
MYO5A
Lavender Foal Syndrome (Color coat dilution lethal)
arabian/egyptian foals
Cannot stand, rigid limb extension
TRPM1
Congenital night blindness
Apaloosa,
linked to leopard spotting complex
DDB2
Ocular SCC
Haflinger | Percheron | Belgian Draft
DNA repair in UV light damage
KRT25 and SP6
Curly Coat Autosomal Dominant
HODX3
OAAM
Arabians
Incoordination - weak foal
GYS1
PSSM1
Autosomal dominant
Gain of function mutation
ACAN
Dwarfism and abnormal cartilage growth in shetland ponies AR
DNAPKcs
SCID in Arabian and X
B and T lymphocytes
B3GALNT2
Hydrocephalus in Friesians Stillbirth and dystocia
ST14
Naked foal syndrome
Akhal Teke
Lethal hairlessness, dry thick skin
<3y
SCN4A
HYPP
Autosomal semi dominant
GBE1
GBED QH - cannot store glycogen weak and die
MUTYH/ TOE1
Cerebellar Abiotrophy Arabian and German Riding Pony Autosomal Recessive Ataxia from 6weeks Purkinje cell degeneration
SRY
Ovotesticular disorder
Y linked
DMRT3
Gaitedness
ITGA2b
Glanzmann Thrombasthenia
platelet fibrinogen receptor
PLOD1
Warmblood fragile foal syndrome
Also in TB, Hanoverian, Morgan
Not associated with fractures in TB - low prevalence 1%
LAMC3
JEB in Draft Horses can involve hoof detachment
SLC5A3
Immunodeficienct of Fell Pony Foals anemia and death Dales ponies too
PPIB
Cyclophilin B - HERDA AR
PMEL17
Multiple Ocular Defects
Semi dominant
RYR1
Malignant Hyperthermia
Autosomal Dominant
Triggers = stress, exercise, GA
IMM in QH - see lymphocytes in mm fibers
MYH1
Lavender Foal Syndrome (Color coat dilution lethal)
arabian/egyptian foals
Cannot stand, rigid limb extension
MYO5A
Congenital night blindness
Apaloosa,
linked to leopard spotting complex
TRPM1
Ocular SCC
Haflinger | Percheron | Belgian Draft
DNA repair in UV light damage
DDB2
Curly Coat Autosomal Dominant
KRT25 and SP6
OAAM
Arabians
Incoordination - weak foal
HODX3
PSSM1
Autosomal dominant
Gain of function mutation
GYS1
SCID in Arabian and X
B and T lymphocytes
DNAPKcs
Naked foal syndrome
Akhal Teke
Lethal hairlessness, dry thick skin
<3y
ST14
HYPP
Autosomal semi dominant
SCN4A
GBED QH - cannot store glycogen weak and die
GBE1
Cerebellar Abiotrophy Arabian and German Riding Pony Autosomal Recessive Ataxia from 6weeks Purkinje cell degeneration
MUTYH/ TOE1
Ovotesticular disorder
Y linked
SRY
Gaitedness
DMRT3
Dwarfism, skeletal ativism in Shetland and Mini
Radius and ulna fully formed

SHOX
Glanzmann Thrombasthenia
platelet fibrinogen receptor
ITGA2b
Warmblood fragile foal syndrome
Also in TB, Hanoverian, Morgan
Not associated with fractures in TB - low prevalence 1%
PLOD1
JEB in Draft Horses can involve hoof detachment
LAMC3
Immunodeficienct of Fell Pony Foals anemia and death Dales ponies too
SLC5A3
Cyclophilin B - HERDA AR
PPIB
Multiple Ocular Defects
Semi dominant
PMEL17
Malignant Hyperthermia
Autosomal Dominant
Triggers = stress, exercise, GA
RYR1