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Chondrodysplasia (CDPA)
Breed: Portuguese Water Dog/ Cão de Agua Português
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
Relevance Rating: All current evidence indicates that the test is not meaningful or recommended for these breeds
General
Disease Name
Chondrodysplasia (CDPA)
OMIA
187
Gene Name
FGF4 retrogene insertion on Ch 18
Mutation
g.33710178_33710179insMF040221
Mutation 6
g.120752486_120752490delGAACA
Test Type
Genetic Disease/Disorder
Details
Chondrodysplasia is a catagory of skeletal dysplasia leading to abnormal growth of cartilage, resulting in distinct dwarf characteristics. Even though Chondrodysplasia is normally regarded as a defect in not-short breeds, this canine mutation is not always classified as a defect, but as a short-legged phenotype that defines at least 19 dog breeds including Dachshund, Corgi, and Basset Hound.
Details 2
Chondrodysplasia is a catagory of skeletal dysplasia leading to abnormal growth of cartilage, resulting in distinct dwarf characteristics. Even though chondrodysplasia is normally regarded as a defect in not-short breeds, this canine mutation is not always classified as a defect, but as a short-legged phenotype that defines at least 19 dog breeds including Dachshund, Corgi, and Basset Hound. However, this form of dwarfism can come with increased risk of developing IVDD, ADIP/AD for IVDD risk
Published
Parker, HG., Vonholdt, BM., Quignon, P., Margulies, EH., Shao, S., Mosher, DS., Spady, TC., Elkahloun, A., Cargill, M., Jones, PG., Maslen, CL., Acland, GM., Sutter, NB., Kuroki, K., Bustamante, CD., Wayne, RK., Ostrander, EA. : An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs. Science 325:995-8, 2009. Pubmed reference: 19608863. DOI: 10.1126/science.1173275.
Published 2
Brown, E.A., Dickinson, P.J., Mansour, T., Sturges, B.K., Aguilar, M., Young, A.E., Korff, C., Lind, J., Ettinger, C.L., Varon, S., Pollard, R., Brown, C.T., Raudsepp, T., Bannasch, D.L. : FGF4 retrogene on CFA12 is responsible for chondrodystrophy and intervertebral disc disease in dogs. Proc Natl Acad Sci U S A 114:11476-11481, 2017. Pubmed reference: 29073074. DOI: 10.1073/pnas.1709082114.
Published 3
Emily A. Brown, Peter J. Dickinson, Tamer Mansour, Beverly K. Sturges, Miriam Aguilar, Amy E. Young, Courtney Korff, Jenna Lind, Cassandra L. Ettinger, Samuel Varon, Rachel Pollard, C. Titus Brown, Terje Raudsepp, Danika L. Bannasch. 2017. FGF4 retrogene
Body/System/Process
Skeletal
OMIA Url
Inheritance
AD
Breed Specific Info
Researched Breeds
Basset Hound, Dachshund, Pembroke Welsh Corgi
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
FGF4 retrogene
Mutation
CFA12 insertion; g.33710178_33710179insMF040221
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
FGF4 retrogene
Mutation
CFA12 insertion; g.33710178_33710179insMF040221
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
GTP Disease Name
skeletal dysplasia
GTP Disease Synonym
Hansens I IVDD
Gene Name
FGF4 retrogene
Mutation
CFA12 insertion; g.33710178_33710179insMF040221
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
FGF4 retrogene
Mutation
CFA12 insertion; g.33710178_33710179insMF040221
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
FGF4 retrogene
Mutation
CFA12 insertion; g.33710178_33710179insMF040221
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
FGF4 retrogene
Mutation
CFA12 insertion; g.33710178_33710179insMF040221
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
skeletal dysplasia
Gene Name
FGF4
Mutation
Chromasome 18
Mutation Comment
g.33710178_33710179insMF040221
Nature of test
mutation test
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
FGF4 retrogene
Mutation
CFA12 insertion; g.33710178_33710179insMF040221
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
FGF4 retrogene
Mutation
CFA12 insertion; g.33710178_33710179insMF040221
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
FGF4 retrogene
Mutation
CFA12 insertion; g.33710178_33710179insMF040221
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
FGF4 retrogene
Mutation
CFA12 insertion; g.33710178_33710179insMF040221
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
GTP Disease Name
skeletal dysplasia
GTP Disease Synonym
Hansens I IVDD
Gene Name
FGF4
Mutation
Chromasome 18
Mutation Comment
CFA12 insertion
Nature of test
mutation test
GTP- or Breed-Specific Publications
Emily A. Brown, Peter J. Dickinson, Tamer Mansour, Beverly K. Sturges, Miriam Aguilar, Amy E. Young, Courtney Korff, Jenna Lind, Cassandra L. Ettinger, Samuel Varon, Rachel Pollard, C. Titus Brown, Terje Raudsepp, Danika L. Bannasch. 2017. FGF4 retrogene
Application in the Breed
Dwarfism with increased risk of developing IVDD
Inheritance
ADIP/AD for IVDD risk
FCI Number
37
GTP Breed
Portuguese water dog/ Cão de água português
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
FGF4 retrogene
Mutation
CFA12 insertion; g.33710178_33710179insMF040221
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
FGF4 retrogene
Mutation
CFA12 insertion; g.33710178_33710179insMF040221
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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