Gene Mutations

Question 1

Malignant Hyperthermia

Answer 1

RYR1 Ryanodine Receptor 1

Question 2

Calipyge

Answer 2

CLPG1

Question 3

Double-musculing

Answer 3

Myostatin (whippets)

Question 4

X-Linked Muscular Dystrophy

Answer 4

Dystrophin

Question 5

Exercise induced collapse

Answer 5

Dynamin , Labs

Question 6

Canine Myotonia

Answer 6

ClC-1, Skeletal Muscle Chlorid Channel, Mini Schnauzer

Question 7

Hyperkalemic Periodic Paralysis (HYPP)

Answer 7

Skeletal muscle sodium channel, QH

Question 8

X-Linked Myotubular Myopathy

Answer 8

MTM1, Myotubularin, Labs

Question 9

Centronuclear Myopathy

Answer 9

PTPLA, Labs

Question 10

Glycogenosis Type 4

Answer 10

PFK, phosphofructokinase, Spaniels

Question 11

Myosphosphorylase Deficiency

Answer 11

Myophosphorylase, Charolais

Question 12

Polysaccharide Storage Myopathy (PSSM)

Answer 12

GYS1, Glycogen Synthase 1, QH & Draft

Question 13

Collie Eye Anomaly

Answer 13

NHEJ

Question 14

Mice Retinal Dysplasia

Answer 14

rd1, Mice: C3H, FVB, CBA, SWR

Question 15

Canine Retinal Dysplasia

Answer 15

COL9 (drd1 = lab, drd3 = samoyed)

Question 16

Ectopia Lentis

Answer 16

ADAMST17 (Tibetan terriers)

Question 17

Congenital Deafness: MPS 1

Answer 17

a-L-iduronidase

Question 18

Congenital Deafness: MP3

Answer 18

B-glucuronidase

Question 19

Congenital Deafness: B-mannisidosis

Answer 19

B-mannosidase (MANBA)

Question 20

Congenital Deafness: Paint Horses

Answer 20

EDNBR

Question 21

Non-Epidermolytic Ichthyosis (3 dog breeds)

Answer 21

PNPLA1 - Golden retrievers
ICHTHYN - American bull dogs
TGM1 - Jack Russel Terriers

Question 22

Epidermolytich Ichthyosis

Answer 22

KRT (Norfolk Terrier)

Question 23

Bovine Hereditary Zinc Deficiency

Answer 23

SLC39A4 (friesian or black danish cattle)

Question 24

Epidermolysis bullosa simplex

Answer 24

K5: macaques, cattle (theoretically K14 too)

Question 25

Junctional Epidermolysis bullosa

Answer 25

BP180/BPAG2/COL17 Integrin a6B4 Laminin 5 chains: LAMA3, LAMB3, LAMC2, LAD-1 LAMA3: American Saddlebred, German Shorthaired Pointer LAMB3: DSH LAMC2: French draft foals, DSH

Question 26

Dystrophic Epidermolysis bullosa

Answer 26

COL7A1 (swiss sheep, DSH)

Question 27

Acantholytic dermatoses (2 dog breeds)

Answer 27

SERCA2 (English setter) | PKP1 (Chesapeake Bay Retriever)

Question 28

Hypotrichosis & Adontia

Answer 28

ED1 Ectodysplasin 1 (Holsteins)

Question 29

X-Linked Hypohydrotic Ectodermal Dysplasia

Answer 29

ED1 (dogs)

Question 30

Semi Dominant Ectodermal Dysplasia

Answer 30

FOX13 (Mexican hairless, chinese crested)

Question 31

Bovine Dermatospraxis type 7C Ehlers Danlos

Answer 31

Prollagen 1 N-proteinase

Question 32

Cutaneous mucinosis

Answer 32

HAS2 (Shar pei)

Question 33

Cyclic hematopoeisis

Answer 33

AP3 (Collies)

Question 34

Congenital hematopoetic porphyria

Answer 34

Uroporphyrinogen III cosynthetase (many cattle, siamese cats)

Question 35

Bovine erythropoietic protoporphyria

Answer 35

Ferrochetalase (Limousin cattle)

Question 36

Cropped pinna

Answer 36

BTA6 (Highland cattle)

Question 37

Ceroid lipofuscinosis

Answer 37

CLNs and others

Question 38

Osteopetrosis in red Angus cattle

Answer 38

SLC4A2

Question 39

Lissencephaly

Answer 39

LIS1, double cortin, reelin