Table 1.
Breed distributions of canine NCL‐associated mutations
| Disease | Gene | Mutation | Amino Acid Sequence | Affected Dog Breed |
|---|---|---|---|---|
| CLN1 | PPT1 | PPT1:c.736_737insC | p.F246Lfs*29 | Dachshund4 |
| CLN2 | TPP1 | TPP1:c.325delC | p.A108Pfs*6 | Dachshund5 |
| CLN5 | CLN5 | CLN5:c.619C>T | p.Q207X | Border Collie,6 Australian Cattle Dog (current report) |
| CLN5 | CLN5 | CLN5:c.934_935delAG | CLN5:p.E312Vfs*6 | Golden Retriever7 |
| CLN6 | CLN6 | CLN6:c.829T>C | p.W277R | Australian Shepherd8 |
| CLN7 | MFSD8 | MFSD8c.843delT | p.F282Lfs*13 | Chinese Crested Dog, Chihuahua9, 15 |
| CLN8 | CLN8 | CLN8:c.491T>C | p.L164P | English Setter10 |
| CLN8 | CLN8 | CLN8:c.585G>A | p.W195X | Australian Shepherd11 |
| CLN10 | CTSD | CTSD:c.597G>A | p.M199I | American Bulldog12 |
| CLN12 | ATP13A2 | ATP13A2:c.1623delG | p.P541 fs*56 | Tibetan Terrier13, 14 |