Confirmation of a non-synonymous SNP in PNPLA8 as a candidate causal mutation for Weaver syndrome in Brown Swiss cattle

Table 4 Familial relationships, genotypes and assumed disease status of animal W0277, its progeny and their dams

Animal ID	Relationship between animals (see Fig. 3)	Clinical/genetic diagnosis from the 1990s	Clinical re-evaluation in 2015	Genotype of SNP at
Animal ID	Relationship between animals (see Fig. 3)	Clinical/genetic diagnosis from the 1990s	Clinical re-evaluation in 2015	49,878,773 bp	50,858,538 bp
W0277	Sire of W0165 and W0364, maternal grandsire of W0289	Carrier	–	CC	GG
W0165	Direct offspring	Affected	Free	CC	GA
W0166	Dam of W0165	Carrier	–	CC	–
W0364	Direct offspring	Affected	Free	CC	GG
W0365	Dam of W0364	Carrier	–	CC	GG
W0289	Granddaughter of W0277	Affected	Free	CC	–
W0287	Dam of W0289, daughter of W0277	Carrier	–	CC	–
W0303	Sire of W0289	Carrier	–	CT	GG

SNP_49878773 genotypes: C: reference allele, T: alternative allele; SNP_50858538 genotypes: G: reference allele, A: alternative allele, dashes indicate that the animal was not genotyped due to the lack of testing material. Clinical re-evaluation in 2015: dashes indicate the lack of embedded spinal cord tissue and histopathological sections

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