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Chondrodysplasia

Breed: Pekingese

Generic Phene Data

General

Disease Name
Chondrodysplasia
Mutation
g.33710178_33710179insMF040221
Test Type
Other Genetic Traits
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.

Breed Specific Info

Researched Breeds
Basset Hound, Dachshund, Pembroke Welsh Corgi

Breed Specific Data

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Breed
Gene Name
FGF4 retrogene
Mutation
CFA12 insertion; g.33710178_33710179insMF040221

BioBank AS

GTP Name
BioBank AS
Breed
Gene Name
FGF4 retrogene
Mutation
CFA12 insertion; g.33710178_33710179insMF040221

Certagen GmbH

GTP Name
Certagen GmbH
Breed
Gene Name
FGF4 retrogene
Mutation
CFA12 insertion; g.33710178_33710179insMF040221

CMSCH

GTP
GTP Name
CMSCH
Breed
Gene Name
FGF4 retrogene
Mutation
CFA12 insertion; g.33710178_33710179insMF040221

Genomia s.r.o

GTP Name
Genomia s.r.o
Breed
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
Gene Name
FGF4 retrogene
Mutation
CFA12 insertion; g.33710178_33710179insMF040221

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Breed
Gene Name
FGF4 retrogene
Mutation
CFA12 insertion; g.33710178_33710179insMF040221

PharmaDNA

GTP
GTP Name
PharmaDNA
Breed
Gene Name
FGF4 retrogene
Mutation
CFA12 insertion; g.33710178_33710179insMF040221

Progènes-ADN

GTP Name
Progenes ADN
Breed
Gene Name
FGF4 retrogene
Mutation
CFA12 insertion; g.33710178_33710179insMF040221

Veterinary Genetics Laboratory

GTP Name
Veterinary Genetics Laboratory
Breed
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
207
GTP Breed
Pekingese

VHL Genetics

GTP Name
VHL Genetics
Breed
Gene Name
FGF4 retrogene
Mutation
CFA12 insertion; g.33710178_33710179insMF040221

Zoolyx

GTP
GTP Name
Zoolyx
Breed
Gene Name
FGF4 retrogene
Mutation
CFA12 insertion; g.33710178_33710179insMF040221
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