Chondrodysplasia (CDPA)
Chondrodysplasia is a catagory of skeletal dysplasia leading to abnormal growth of cartilage, resulting in distinct dwarf characteristics.
Discussion
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.
Genetics
Inheritance
AD
OMIA
000187
OMIA Variant
000694
OMIA URL
https://www.omia.org/OMIA000187/9615/
OMIN
225500
Gene
FGF4
Variants
g.33710178_33710179insMF040221; g.120752486_120752490delGAACA
Variants Comments
a 5kb insertion containing a FGF4 retrogene, i.e. a processed pseudogene of FGF4: The insertion containing the FGF4 retrogene starts at 23,431,136 on CFA18, which is 25Mb away from the complete (original) FGF4 gene, which is located at CFA18 48413479-48415205 [From OMIA]
Testing
Test Types
Genetic-Genomic
Assessments
Specific Genetic Test
Assays
dwn_cnd_
Connections
- Updated