NCL RESOURCE - A GATEWAY FOR BATTEN DISEASE
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 |
These sheep show reduced expression of CLN6 mRNA (Tammen et al. 2006 Biochim Biophys Acta 1762: 898-905)
'NCL Resource' is maintained by Sara Mole.
MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London. WC1E 6BT. United Kingdom.
If you have comments or suggestions or details for inclusion, email ncl-www@ucl.ac.uk or telephone +44 207 679 7257.
Last updated 23/1/2013