Head Defect
Head Defect
General description
The mutation causing the Burmese Head Defect affects function of a gene significant for facial development. One copy of the mutation does not cause the craniofacial defect but may produce a shortened facial structure (brachycephaly). Cats with two copies of the mutation have the severe craniofacial defect that is incompatible with life
Breeds
Burmese
Order details
| Test number | 8465 |
| 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 |
| Causality | causally |
| Gene | ALX1 |
| Mutation | DEL |
| Literature | OMIA:001551-9685 |
Detailed description
A recessive mutation that causes a congenital craniofacial defect in Burmese cats has been discovered by the Lyons Feline Genetics Research Laboratory at UC Davis. The mutation affects function of a gene significant for facial development. The Burmese Head Defect mutation is common in the Contemporary lines of Burmese in the United States. One copy of the mutation does not cause the craniofacial defect but may produce a shortened facial structure (brachycephaly). Cats with two copies of the mutation have the severe craniofacial defect that is incompatible with life.
