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Phase II > Gene Mutations > Flashcards

Gene Mutations Flashcards

1
Q

Malignant Hyperthermia

A

RYR1 Ryanodine Receptor 1

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2
Q

Calipyge

A

CLPG1

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3
Q

Double-musculing

A

Myostatin (whippets)

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4
Q

X-Linked Muscular Dystrophy

A

Dystrophin

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5
Q

Exercise induced collapse

A

Dynamin , Labs

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6
Q

Canine Myotonia

A

ClC-1, Skeletal Muscle Chlorid Channel, Mini Schnauzer

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7
Q

Hyperkalemic Periodic Paralysis (HYPP)

A

Skeletal muscle sodium channel, QH

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8
Q

X-Linked Myotubular Myopathy

A

MTM1, Myotubularin, Labs

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9
Q

Centronuclear Myopathy

A

PTPLA, Labs

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10
Q

Glycogenosis Type 4

A

PFK, phosphofructokinase, Spaniels

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11
Q

Myosphosphorylase Deficiency

A

Myophosphorylase, Charolais

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12
Q

Polysaccharide Storage Myopathy (PSSM)

A

GYS1, Glycogen Synthase 1, QH & Draft

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13
Q

Collie Eye Anomaly

A

NHEJ

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14
Q

Mice Retinal Dysplasia

A

rd1, Mice: C3H, FVB, CBA, SWR

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15
Q

Canine Retinal Dysplasia

A

COL9 (drd1 = lab, drd3 = samoyed)

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16
Q

Ectopia Lentis

A

ADAMST17 (Tibetan terriers)

17
Q

Congenital Deafness: MPS 1

A

a-L-iduronidase

18
Q

Congenital Deafness: MP3

A

B-glucuronidase

19
Q

Congenital Deafness: B-mannisidosis

A

B-mannosidase (MANBA)

20
Q

Congenital Deafness: Paint Horses

A

EDNBR

21
Q

Non-Epidermolytic Ichthyosis (3 dog breeds)

A

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

22
Q

Epidermolytich Ichthyosis

A

KRT (Norfolk Terrier)

23
Q

Bovine Hereditary Zinc Deficiency

A

SLC39A4 (friesian or black danish cattle)

24
Q

Epidermolysis bullosa simplex

A

K5: macaques, cattle (theoretically K14 too)

25
Q

Junctional Epidermolysis bullosa

A

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

26
Q

Dystrophic Epidermolysis bullosa

A

COL7A1 (swiss sheep, DSH)

27
Q

Acantholytic dermatoses (2 dog breeds)

A

SERCA2 (English setter)

PKP1 (Chesapeake Bay Retriever)

28
Q

Hypotrichosis & Adontia

A

ED1 Ectodysplasin 1 (Holsteins)

29
Q

X-Linked Hypohydrotic Ectodermal Dysplasia

A

ED1 (dogs)

30
Q

Semi Dominant Ectodermal Dysplasia

A

FOX13 (Mexican hairless, chinese crested)

31
Q

Bovine Dermatospraxis type 7C Ehlers Danlos

A

Prollagen 1 N-proteinase

32
Q

Cutaneous mucinosis

A

HAS2 (Shar pei)

33
Q

Cyclic hematopoeisis

A

AP3 (Collies)

34
Q

Congenital hematopoetic porphyria

A

Uroporphyrinogen III cosynthetase (many cattle, siamese cats)

35
Q

Bovine erythropoietic protoporphyria

A

Ferrochetalase (Limousin cattle)

36
Q

Cropped pinna

A

BTA6 (Highland cattle)

37
Q

Ceroid lipofuscinosis

A

CLNs and others

38
Q

Osteopetrosis in red Angus cattle

A

SLC4A2

39
Q

Lissencephaly

A

LIS1, double cortin, reelin

Phase II (5 decks)

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