Genes Flashcards
Tricho-dento-osseus like syndrome
mutation DLX3 in a Brown Swiss calf
rat-tail syndrome
SILV
Congenital hypotrichosis in a Percheron draught horse
KRT25: curly coat and hypotrichosis in horses
Canine junctional epidermolysis bullosa with severe upper respiratory involvement
LAMA3
Name mutation associated with EB and pyloric atresia
: mutation in hemidesmosomes in gene coding integrin α6β4
Name mutation for JEB in horse, sheep, dogs?
LAM 2 or 3 responsible for expression of Laminin 332
Which is the most common form of EB in bovine? Which breed?
JEB.
Siemmental and crosses
In which breed of goat we have most commonly DEB
Anglonubian Goats
JEB in Churra lamb which what systemic signs can be associated
Congenital absence of the skin
EB in Sprague Dawley rats
DEB
ulcerative skin lesions in a Holstein calf- subepidermal clefting
in ASPDH gene
lanceolate hair mutant mice
Dsg4 Krt 75
Bald tight syndrome - downregulation of genes
keratin 1 and desmocollin
Reccurent flank alopecia
FGF-18: decreased expression
Atypical Recurrent Flank Alopecia
in Cesky Fousek, Vizslas, German Wirehaired Pointers,
Alopecia x and p63- up or down
decerased expression
Portugese water dogs- pattern alopecia
mutation R-spondin 2 gene
Pituitary Dwarfism in GSD, Saarloos, Czechoslovakian Wolfdogs, Tibetian Terriers
AR inherited, mutations in LIM homeobox3
5 types of ichthyosis
1) Vulgaris,
2) X-linked,
3) Epidermolytic,
4) Lamellar,
5) Harlequin
Chihuahua ichthyosis
SDR9C7
Chianina cattle
: mutation in ABCA12 gene-fetalis
Which breed of pigs have ichthyosis
Pot bellied
In which breed of goat ichthyosis was reported
Nigerian dwarf goat
DERMOID SINUS
AD 3 FGF (3,4,19
Irish Terrier with Darier Disease
ATP2A2
COAT COLOR DILUTION AND CEREBELAR DEGENERATION IN RHODESIAN RIDGEBACK
recessive allele d at autosomal D locus
EDS in dogs
COL5A1
Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility
ADAMTS2
6 genetic variants cause canine EDS
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.
FOCAL METATARSAL FISTULA IN GSD/Weimaraners/Grayhound
Type I and II collagen significantly elevated
litter of Turkish Van cats with acrodermatitis enteropathica
SLC39A4 i
Acral mutilation syndrome
AMS in German short-haired pointers, English pointers, English springer spaniels, French spaniels or miniature pinschers (GDNF gene).
Border Collie, sensory neuropathy different from what observed in acral mutilation syndrome
FAM134B gene
Name the histopathological features of dermatosis vegetans?
Giant cell in the dermis and intraepidermal pustules
In which species and breed we have the sticky kid syndrome
Goat, Golden Guernseys
SPAID
MTBP
Harleqin locus
PSMB7
Mutations in melanophilin, myo5a,rab27a- how is the name of the syndrome
Griscelli syndrome
Disease of melanome transfer
- Griscelli syndrome
- Lavander foal syndrome
- CDa
- Bhfd
Melanin synthesis disease
- Nutricional
- Oca
Dilution of pheomelanin
MFSD12
Mocha variant
Tyrosinase
Oca genes
MAC infection in min schnauzers gene
CARD 9
