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Junctional Epidermolysis Bullosa
Breed: German Shorthaired Pointing Dog/ Deutsch Kurzhaar
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
General
Disease Name
Junctional Epidermolysis Bullosa
OMIA
1677
Gene Name
LAMA3
Mutation
4818+2078ins6.5kb
Test Type
Genetic Disease/Disorder
Details
Blistering of the skin and mucous membranes due to a reduction in the amount of a protein required for connecting layers of skin
Details 2
Blisters in and around the mouth and on the limbs... resulting in inability to stand. (From OMIA)
Published
Capt, A., Spirito, F., Guaguere, E., Spadafora, A., Ortonne, J.P., Meneguzzi, G. : Inherited junctional epidermolysis bullosa in the German Pointer: establishment of a large animal model. J Invest Dermatol 124:530-5, 2005. Pubmed reference: 15737193. DOI: 10.1111/j.0022-202X.2004.23584.x.
Body/System/Process
Skin
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
German Pointer
HSP Test-Specific Data
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
EBJ
Gene Name
LAMA3
Mutation
c.1514C>T
Nature of test
Linkage
FCI Number
119
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
GTP Disease Name
EBJ
Gene Name
LAMA3
Mutation
4818+2078ins6.5kb
Embark
GTP
GTP Name
Embark
Breed
OMIA
Gene Name
LAMA3
Mutation
4818+2078ins6.5kb
Nature of test
mutation test
GTP- or Breed-Specific Publications
Capt, A., Spirito, F., Guaguere, E., Spadafora, A., Ortonne, J.P., Meneguzzi, G. : Inherited junctional epidermolysis bullosa in the German Pointer: establishment of a large animal model. J Invest D
Application in the Breed
Carriers may be bred to normal animals (N/jeb x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/jeb x N/jeb) nor of affected animals (jeb/jeb). Blistering of the skin and mucous membranes due to a reduction in the amount of a protein required for connecting layers of skin
Inheritance
AR
FCI Number
119
GTP Breed
German shorthaired pointing dog/ Deutsch Kurzhaar
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
Gene Name
LAMA3
Mutation
4818+2078ins6.5kb
Nature of test
mutation test
GTP- or Breed-Specific Publications
Capt, A., Spirito, F., Guaguere, E., Spadafora, A., Ortonne, J.P., Meneguzzi, G. : Inherited junctional epidermolysis bullosa in the German Pointer: establishment of a large animal model. J Invest D
Application in the Breed
Carriers may be bred to normal animals (N/jeb x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/jeb x N/jeb) nor of affected animals (jeb/jeb). Blistering of the skin and mucous membranes due to a reduction in the amount of a protein required for connecting layers of skin
Inheritance
AR
FCI Number
119
GTP Breed
German shorthaired pointing dog/ Deutsch Kurzhaar
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