Osteochondrodysplasie
Osteochondrodysplasia (OCD)
General description
Scottish fold cats show the characteristic ear shape. Furthermore this mutation causes osteochondrodysplasia in this breed with malformation in bones and joints of the distal limbs and tail.
Breeds
Scottish Fold Longhair, Scottish Fold Shorthair
Order details
| Test number | 8349 |
| Abbreviation | OCD |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | skeletal |
| Inheritance | autosomal dominant |
| Causality | causally |
| Gene | TRPV4 |
| Mutation | C-A |
| Literature | OMIA:000319-9685 |
Detailed description
The mutation in the TRPV4 gene leads to the phenotype of Scottish fold cats with the characteristic ear shape. Furthermore this mutation causes osteochondrodysplasia in this breed with malformation in bones and joints of the distal limbs and tail. Homozygous mutant cats seem to be more affected, therefore it is not recommended to pair Scottish fold cats with one another.
