D4.9: Collection of gold-standard representative images and key scientific and phenotypic findings

This deliverable is founded on a number of earlier SYBIL deilverables, in particular agreed protocols (D4.1, D4.2 and D4.3) and reference ontologies (D5.4). These core technologies have been tested, reviewed and refined in producing materials for this deliverable. They have been made publically available through the SYBIL website and the SYBIL portal.

The systematic description of phenotypes is informed by the needs of comparability, equivalence and inference necessary to systems biology, bioinformatic analysis and other analytic techniques employed by the project.

Each component of this deliverable comprises descriptions of phenotypes, following the agreed protocols, together with the images underlying these descriptions and supplemented by associated scientific findings. All the materials included have been subjected to scientific review.

The collection

The published collection for D4.9 contains the following contributions.

D4.9.1 application/pdf

  • Strain name: Notch2 6272delT/Hhtg Clone E11
  • Genetic variant: Notch2+/+ , Notch2+/HCS
  • RSD: Hajdu-Cheney syndrome
  • Images:

Notch2HCSKossa.png Notch2HCSuCT.png

D4.9.2 application/pdf

  • Strain name: B6.129P2-Lrp5<tm1Dgen>/J
  • Genetic variant: Lrp5+/+, Lrp5d/d
  • RSD: Osteoporosis Pseuoglioma syndrome
  • Images:


D4.9.3 application/pdf

  • Strain name: C57BL/6J-Arsbm1J/GrsrJ
  • Genetic variant: Arsb+/+, Arsbd/d
  • RSD: mucopolysaccharidosis type VI
  • Images:

ArsbnullKossa.png ArsbnulluCT.png

D4.9.4 application/pdf

  • Strain name: Brtl+/-
  • Genetic variant: G349C
  • RSD: Osteogenesis Imperfecta type IV and type II
  • Images:


D4.9.5 application/pdf

  • Strain name: dal/dal
  • Genetic variant: 1288delACTG
  • RSD: Prolidase Deficiency
  • Images:


D4.9.6 application/pdf

  • Strain name: dtd mouse
  • Genetic variant: A386V in SLC26A2
  • RSD: diastrophic dysplasia
  • Images:

BrdUdtd.jpg Figure2.jpeg H&Hdtd.jpg ihhdtd.jpg toluidineblueandtuneldtd.jpg toluidineblueandaggrecandtd.jpg

D4.9.7 application/pdf

  • Protocols together with representative images of the protocol outcomes
  • Genetic variant: MATN3 581 T>A (human variant)
  • RSD: Multiple Epiphyseal Dysplasia (MED)
  • Images:

phenotypingUNEW1.jpg xraymatn3.jpg


  • Strain name: Zebrafish
  • Genetic variant: injection of miRNA affecting bone formation
  • RSD: osteoporosis
  • Images:



  • Strain name: B6-Tg(Col1a1-Sost)1Hhtg
  • Genetic variant: Col1a1-Sost
  • RSD: Sclerostin-mediated osteoporosis
  • Images:

Col1a1-SostKossa.png Col1a1-SostuCT.png


D4.9.11  application/pdf

  • Strain name: C57Bl/6N-Matn3-T298M
  • Genetic variant: T298M of MATN3
  • CSD: osteoarthritis
  • Images:

2weeks 2weeksknee DMMOAMutant EM2and4weeksoldknees

D4.9.12 application/pdf

  • Strain name: Cant1-/- mouse
  • Genetic variant: Cant1
  • RSD: Desbuquois dysplasia type 1
  • Images:

bfrvertebre(1).jpg deltaphalanx.png fratture(1).jpg proliferation.png

Recessive1.png TEM.png toluidineblue.png Xray.png

D4.9.13 application/pdf

  • Strain name: Clcn7 G213R/WT ADO 2 mice
  • Genetic variant: heterozygous autosomal dominant missense mutation on the Clcn7 gene encoding for the amino acid change Glycine to Arginine in position 213 of the Chloride channel type 7 protein (Clcn7G213R/WT ADO 2 mice)
  • RSD: Autosomal Dominant Osteopetrosis type 2 (ADO2)
  • Images:

Figure(1).JPG Figure(2).JPG Figure(3).JPG Figure(4).JPG Figure(5).JPG