Genes

Question 1

Tricho-dento-osseus like syndrome

Answer 1

mutation DLX3 in a Brown Swiss calf

Question 2

rat-tail syndrome

Answer 2

SILV

Question 3

Congenital hypotrichosis in a Percheron draught horse

Answer 3

KRT25: curly coat and hypotrichosis in horses

Question 4

Canine junctional epidermolysis bullosa with severe upper respiratory involvement

Answer 4

LAMA3

Question 5

Name mutation associated with EB and pyloric atresia

Answer 5

: mutation in hemidesmosomes in gene coding integrin α6β4

Question 6

Name mutation for JEB in horse, sheep, dogs?

Answer 6

LAM 2 or 3 responsible for expression of Laminin 332

Question 7

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

Answer 7

JEB.
Siemmental and crosses

Question 8

In which breed of goat we have most commonly DEB

Answer 8

Anglonubian Goats

Question 9

JEB in Churra lamb which what systemic signs can be associated

Answer 9

Congenital absence of the skin

Question 10

EB in Sprague Dawley rats

Answer 10

DEB

Question 11

ulcerative skin lesions in a Holstein calf- subepidermal clefting

Answer 11

in ASPDH gene

Question 12

lanceolate hair mutant mice

Answer 12

Dsg4 Krt 75

Question 13

Bald tight syndrome - downregulation of genes

Answer 13

keratin 1 and desmocollin

Question 14

Reccurent flank alopecia

Answer 14

FGF-18: decreased expression

Question 15

Atypical Recurrent Flank Alopecia

Answer 15

in Cesky Fousek, Vizslas, German Wirehaired Pointers,

Question 16

Alopecia x and p63- up or down

Answer 16

decerased expression

Question 17

Portugese water dogs- pattern alopecia

Answer 17

mutation R-spondin 2 gene

Question 18

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

Answer 18

AR inherited, mutations in LIM homeobox3

Question 19

5 types of ichthyosis

Answer 19

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

Question 20

Chihuahua ichthyosis

Answer 20

SDR9C7

Question 21

Chianina cattle

Answer 21

: mutation in ABCA12 gene-fetalis

Question 22

Which breed of pigs have ichthyosis

Answer 22

Pot bellied

Question 23

In which breed of goat ichthyosis was reported

Answer 23

Nigerian dwarf goat

Question 24

DERMOID SINUS

Answer 24

AD 3 FGF (3,4,19

Question 25

Irish Terrier with Darier Disease

Answer 25

ATP2A2

Question 26

COAT COLOR DILUTION AND CEREBELAR DEGENERATION IN RHODESIAN RIDGEBACK

Answer 26

recessive allele d at autosomal D locus

Question 27

EDS in dogs

Answer 27

COL5A1

Question 28

Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility

Answer 28

ADAMTS2

Question 29

6 genetic variants cause canine EDS

Answer 29

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.

Question 30

FOCAL METATARSAL FISTULA IN GSD/Weimaraners/Grayhound

Answer 30

Type I and II collagen significantly elevated

Question 31

litter of Turkish Van cats with acrodermatitis enteropathica

Answer 31

SLC39A4 i

Question 32

Acral mutilation syndrome

Answer 32

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

Question 33

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

Answer 33

FAM134B gene

Question 34

Name the histopathological features of dermatosis vegetans?

Answer 34

Giant cell in the dermis and intraepidermal pustules

Question 35

In which species and breed we have the sticky kid syndrome

Answer 35

Goat, Golden Guernseys

Question 36

SPAID

Answer 36

MTBP

Question 37

Harleqin locus

Answer 37

PSMB7

Question 38

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

Answer 38

Griscelli syndrome

Question 39

Disease of melanome transfer

Answer 39

1. Griscelli syndrome 2. Lavander foal syndrome 3. CDa 4. Bhfd

Question 40

Melanin synthesis disease

Answer 40

1. Nutricional 2. Oca

Question 41

Dilution of pheomelanin

Answer 41

MFSD12

Question 42

Mocha variant

Answer 42

Tyrosinase

Question 43

Oca genes

Answer 43

Question 44

MAC infection in min schnauzers gene

Answer 44

CARD 9