Ovine NCL CLN6

Merino

No. of disease causing mutations: 1

Identifier Nucleotide change Mutation Amino acid change/  Predicted consequence Location Restriction site change Reference
ocln6.001 c.184C>T Missense p.Arg62Cys  
Tammen et al.  2006 Biochim Biophys Acta 1762: 898-905
ocln6.002 c.56A>G Polymorphism    
Tammen et al.  2006 Biochim Biophys Acta 1762: 898-905
ocln6.003 c.822G>A Polymorphism    
Tammen et al. 2006 Biochim Biophys Acta 1762: 898-905
ocln6.004 c.933_934insCT Polymorphism    
Tammen et al.  2006 Biochim Biophys Acta 1762: 898-905

 

South Hampshire

These sheep show reduced expression of CLN6 mRNA (Tammen et al.  2006 Biochim Biophys Acta 1762: 898-905)

 

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