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Fig. 7 | BMC Veterinary Research

Fig. 7

From: Lethal chondrodysplasia in a family of Holstein cattle is associated with a de novo splice site variant of COL2A1

Fig. 7

A de novo germline mutation in COL2A1 causes chondrodysplasia. Genalogical chart showing five Holstein calves affected by chondrodysplasia (fully black symbols) and their parents. Males are represented by squares, females by circles. Note, that the electropherograms presented below the pedigree symbols show that the mutant A allele of the COL2A1 intron 36 splice site mutation is present in heterozygous form in chondrodysplasia affected offspring and in the sire’s blood and semen at different ratios. The DNA of case 2 was of very low quality explaining the low ratio of the wild type G allele

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