Studying a mouse knock-in model expressing the Stormorken syndrome mutation

Bleeding tendency is a major part of Stormorken syndrome (OMIM 185070) and repeated bleeding in a young boy was how the first patient came to Professor Helge Stormorken’s attention in 1974.

Stormorken syndrome patients exhibit mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, splenic aplasia/functional asplenia, tubular aggregate myopathy, and miosis (1, 2).

By whole exome sequencing (WES) in a family trio and one unrelated patient we identified a heterozygous missense mutation p.R304W in the gene STIM1, in six patients in four unrelated families (3). In a parallel study the same mutation was identified in two independent patients (4), and later additional patients were described (5), documenting that the STIM1 p.R304W mutation causes the autosomal dominant Stormorken syndrome.

Following our finding we established a knock-in model expressing Stim1 R304W in F1 (c57bl/6xCBA) mice using the CompoZrTM ZFN design. Now we investigate the mechanistic basis of this complex syndrome.

 

Read more about Stormorken Syndrom in OMIM

Read more about our research on ous-research.no

References

  1. Stormorken H et al. 1985. Clin Genet 28 (5):367-374. PDF (In Norwegian)
  2. Stormorken H 2002. Tidsskr Nor Laegeforen 122 (30): 2853-56 (In Norwegian)
  3. Misceo D et al. 2014. Human Mutation 35:556-564. Doi: 10.1002/humu.22544
  4. Nesin V et al. 2014. PNAS 111:4197-4202. Doi: 10.1073/pnas.1312520111.
  5. Morin, G. et al. 2014. Human Mutation 35:1221-1232. Doi: 10.1002/humu.22621.
Published Feb. 21, 2013 8:43 AM - Last modified June 29, 2017 4:02 PM

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