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ms > Genes > Flashcards

Genes Flashcards

1
Q

Tricho-dento-osseus like syndrome

A

mutation DLX3 in a Brown Swiss calf

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2
Q

rat-tail syndrome

A

SILV

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3
Q

Congenital hypotrichosis in a Percheron draught horse

A

KRT25: curly coat and hypotrichosis in horses

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4
Q

Canine junctional epidermolysis bullosa with severe upper respiratory involvement

A

LAMA3

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5
Q

Name mutation associated with EB and pyloric atresia

A

: mutation in hemidesmosomes in gene coding integrin α6β4

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6
Q

Name mutation for JEB in horse, sheep, dogs?

A

LAM 2 or 3 responsible for expression of Laminin 332

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7
Q

Which is the most common form of EB in bovine? Which breed?

A

JEB.
Siemmental and crosses

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8
Q

In which breed of goat we have most commonly DEB

A

Anglonubian Goats

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9
Q

JEB in Churra lamb which what systemic signs can be associated

A

Congenital absence of the skin

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10
Q

EB in Sprague Dawley rats

A

DEB

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11
Q

ulcerative skin lesions in a Holstein calf- subepidermal clefting

A

in ASPDH gene

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12
Q

lanceolate hair mutant mice

A

Dsg4 Krt 75

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13
Q

Bald tight syndrome - downregulation of genes

A

keratin 1 and desmocollin

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14
Q

Reccurent flank alopecia

A

FGF-18: decreased expression

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15
Q

Atypical Recurrent Flank Alopecia

A

in Cesky Fousek, Vizslas, German Wirehaired Pointers,

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16
Q

Alopecia x and p63- up or down

A

decerased expression

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17
Q

Portugese water dogs- pattern alopecia

A

mutation R-spondin 2 gene

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18
Q

Pituitary Dwarfism in GSD, Saarloos, Czechoslovakian Wolfdogs, Tibetian Terriers

A

AR inherited, mutations in LIM homeobox3

19
Q

5 types of ichthyosis

A

1) Vulgaris,
2) X-linked,
3) Epidermolytic,
4) Lamellar,
5) Harlequin

20
Q

Chihuahua ichthyosis

A

SDR9C7

21
Q

Chianina cattle

A

: mutation in ABCA12 gene-fetalis

22
Q

Which breed of pigs have ichthyosis

A

Pot bellied

23
Q

In which breed of goat ichthyosis was reported

A

Nigerian dwarf goat

24
Q

DERMOID SINUS

A

AD 3 FGF (3,4,19

25
Q

Irish Terrier with Darier Disease

A

ATP2A2

26
Q

COAT COLOR DILUTION AND CEREBELAR DEGENERATION IN RHODESIAN RIDGEBACK

A

recessive allele d at autosomal D locus

27
Q

EDS in dogs

A

COL5A1

28
Q

Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility

A

ADAMTS2

29
Q

6 genetic variants cause canine EDS

A

1) 2 different COL5A1 variants and a COL5A2 variant in heterozygous state correspond to “Classical” subtype of human EDS
2) Another case of canine EDS had compound heterozygous TNXB variants, “Classical-like” human subtype,
3) A homozygous ADAMTS2 variant occurred in another canine EDS case, indicating correspondence to the “Dermatosparaxis” human EDS subtype + Doberman Pinscher puppy with EDS likely caused by a homozygous ADAMTS2 nonsense mutation + two novel, likely-causal ADAMTS2 variants homozygous state.

30
Q

FOCAL METATARSAL FISTULA IN GSD/Weimaraners/Grayhound

A

Type I and II collagen significantly elevated

31
Q

litter of Turkish Van cats with acrodermatitis enteropathica

A

SLC39A4 i

32
Q

Acral mutilation syndrome

A

AMS in German short-haired pointers, English pointers, English springer spaniels, French spaniels or miniature pinschers (GDNF gene).

33
Q

Border Collie, sensory neuropathy different from what observed in acral mutilation syndrome

A

FAM134B gene

34
Q

Name the histopathological features of dermatosis vegetans?

A

Giant cell in the dermis and intraepidermal pustules

35
Q

In which species and breed we have the sticky kid syndrome

A

Goat, Golden Guernseys

36
Q

SPAID

A

MTBP

37
Q

Harleqin locus

A

PSMB7

38
Q

Mutations in melanophilin, myo5a,rab27a- how is the name of the syndrome

A

Griscelli syndrome

39
Q

Disease of melanome transfer

A
  1. Griscelli syndrome
  2. Lavander foal syndrome
  3. CDa
  4. Bhfd
40
Q

Melanin synthesis disease

A
  1. Nutricional
  2. Oca
41
Q

Dilution of pheomelanin

A

MFSD12

42
Q

Mocha variant

A

Tyrosinase

43
Q

Oca genes

A
44
Q

MAC infection in min schnauzers gene

A

CARD 9

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