TABLE 1.
Overview of described canine variants potentially involved in the phenotype of the affected Bouviers des Ardennes
| OMIA ID 12 | Gene ID | Gene symbol | Variant | Reference | OMIM gene ID 13 |
|---|---|---|---|---|---|
| 002110‐9615 | 489479 | ATP1B2 a | NC_006587.3(XM_546597.6):c.130_131insLT796559.1:g.50‐276 | Mauri et al, 2017 14 | 182331 |
| 001820‐9615 | 483745 | CAPN1 a | NC_006600.3(XM_540866.5):c.344G>A | Forman et al, 2013 15 | 114 220 |
| 000078‐9615 | 484024 | GRM1 b | NC_006583.3(XM_005615490.3):c.2331_2332ins62bp | Zeng et al, 2011 16 | 604473 |
| 002097‐9615 | 476548 | ITPR1 b | NC_006602.3:g.12880740CTT[7_651] | Forman et al, 2015 17 | 147265 |
| 002240‐9615 | 479129 | KCNIP4 b | NC_006585.3(XM_005618660.3):c.436T>C | Jenkins et al, 2020 18 | 608182 |
| 002089‐9615 | 488635 | KCNJ10 a | NC_006620.3(XM_545752.6):c.627C>G | Gilliam et al, 2014 2 | 602208 |
| 002089‐9615 | 488635 | KCNJ10 a | NC_006620.3:g. 22141027_22141028insC | Gast et al, 2016 8 | 602208 |
| 002089‐9615 | 488635 | KCNJ10 a | NC_006620.3(XM_545752.6):c.986T>C | Van Poucke et al, 2017 6 | 602208 |
| 002194‐9615 | 477604 | SCN8A a | NC_006609.3(XM_022411522.1):c.4898G>T | Letko et al, 2019 19 | 600702 |
| 002279‐9615 | 478239 | SLC12A6 a | NC_006612.3(XM_014109414.2):c.178_181delinsCATCTCACTCAT | Van Poucke et al, 2019 20 | 604878 |
a
Known canine variants that were hypothesized to possibly account for the different phenotypes between the cases.
b
Additional known canine variants that could cause the earlier onset of abnormal gait observed in some of the cases.