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Epidermolytic Hyperkeratosis
Breed: Norfolk Terrier
Generic Phene Data
Breeds
Relevance Rating: There is moderate evidence or research available in this breed
General
Disease Name
Epidermolytic Hyperkeratosis
OMIA
1415
Gene Name
KRT10
Mutation
GT>TT donor splice site of intron 5
Test Type
Genetic Disease/Disorder
Details
Epidermolytic Hyperkeratosis is a form of ichthyosis. Age of onset reported as adult dogs with the disease causing generalised dark pigmentation and fragile skin.
Details 2
Epidermolytic Hyperkeratosis is a form of ichthyosis. "Adult dogs with the disease had generalized, pigmented hyperkeratosis with epidermal fragility." (Credille et al., 2005)
Published
Credille, KM., Barnhart, KF., Minor, JS., Dunstan, RW. : Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs. Br J Dermatol 153:51-8, 2005. Pubmed reference: 16029326. DOI: 10.1111/j.1365-2133.2005.06735.x.
Published 2
Barnhart, KF., Credille, KM., Ambrus, A., Dunstan, RW. : Preservation of phenotype in an organotypic cell culture model of a recessive keratinization defect of Norfolk terrier dogs. Exp Dermatol 14:481-90, 2005. Pubmed reference: 15946235. DOI: 10.1111/j.0906-6705.2005.00306.x.
Body/System/Process
Skin
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Norfolk Terrier
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
KRT10
Mutation
GT>TT donor splice site of intron 5
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
KRT10
Mutation
GT>TT donor splice site of intron 5
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
KRT10
Mutation
GT>TT donor splice site of intron 5
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
KRT10
Mutation
GT>TT donor splice site of intron 5
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Ichthyosis, Norfolk Terrier
GTP Disease Synonym
epidermic hyperkeratosis
Gene Name
KRT10
Mutation
GT>TT donor splice site of intron 5
Nature of test
mutation test
GTP- or Breed-Specific Publications
Credille, KM., Barnhart, KF., Minor, JS., Dunstan, RW. : Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs
Application in the Breed
Carriers may be bred to normal animals (N/eh x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/eh x N/eh) nor of affected animals (eh/eh). Areas of skin are thick and darkened and fragile.
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
272
GTP Breed
Norfolk Terrier
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
KRT10
Mutation
GT>TT donor splice site of intron 5
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Ichthyosis, Norfolk Terrier
GTP Disease Synonym
epidermic hyperkeratosis
Gene Name
KRT10
Mutation
GT>TT donor splice site of intron 5
Nature of test
mutation test
GTP- or Breed-Specific Publications
Credille, KM., Barnhart, KF., Minor, JS., Dunstan, RW. : Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs
Application in the Breed
Carriers may be bred to normal animals (N/eh x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/eh x N/eh) nor of affected animals (eh/eh). Areas of skin are thick and darkened and fragile.
Inheritance
AR
FCI Number
272
GTP Breed
Norfolk Terrier
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
KRT10
Mutation
GT>TT donor splice site of intron 5
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Ichthyosis, Norfolk Terrier
GTP Disease Synonym
epidermic hyperkeratosis
Gene Name
KRT10
Mutation
GT>TT donor splice site of intron 5
Nature of test
mutation test
GTP- or Breed-Specific Publications
Credille, KM., Barnhart, KF., Minor, JS., Dunstan, RW. : Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs
Application in the Breed
Carriers may be bred to normal animals (N/eh x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/eh x N/eh) nor of affected animals (eh/eh). Areas of skin are thick and darkened and fragile.
Inheritance
AR
FCI Number
272
GTP Breed
Norfolk Terrier
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Ichthyosis, Norfolk Terrier
Gene Name
KRT10
Mutation
GT>TT donor splice site of intron 5
Nature of test
mutation test
GTP- or Breed-Specific Publications
Credille, KM., Barnhart, KF., Minor, JS., Dunstan, RW. : Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs
Application in the Breed
Carriers may be bred to normal animals (N/eh x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/eh x N/eh) nor of affected animals (eh/eh). Areas of skin are thick and darkened and fragile.
Inheritance
AR
FCI Number
272
GTP Breed
Norfolk Terrier
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
KRT10
Mutation
GT>TT donor splice site of intron 5
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
KRT10
Mutation
GT>TT donor splice site of intron 5
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
KRT10
Mutation
GT>TT donor splice site of intron 5
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Ichthyosis, Norfolk Terrier
GTP Disease Synonym
epidermic hyperkeratosis
Gene Name
KRT10
Mutation
GT>TT donor splice site of intron 5
Nature of test
mutation test
GTP- or Breed-Specific Publications
Credille, KM., Barnhart, KF., Minor, JS., Dunstan, RW. : Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs
Application in the Breed
Carriers may be bred to normal animals (N/eh x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/eh x N/eh) nor of affected animals (eh/eh). Areas of skin are thick and darkened and fragile.
Inheritance
AR
FCI Number
272
GTP Breed
Norfolk Terrier
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
KRT10
Mutation
GT>TT donor splice site of intron 5
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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