ANAT2341 Lab 8 2013

From Embryology
Revision as of 15:21, 26 August 2013 by Z3283213 (talk | contribs)

Oral presentation of group projects part 1

There will be no short answer/multiple choice test this week and next week due to time constraints

However, please arrive on-time as we need the whole 2 hours to complete the oral presentations

Dividing the tasks

The oral and written reports should be divided into 3 equal sections.

  1. Developmental abnormalities of the disease, diagnosis and human genetics
  2. Genetics of the relevant mouse mutants and the resulting developmental abnormalities
  3. Using the mouse mutants to understand the developmental, cellular and molecular basis of the disease

Each member of the group should assume responsibility for one of these sections. The marks will be divided into 2 parts. A mark for the overall project and a mark for the section for which you have taken responsibility. Therefore, it is important to edit each others work and ensure that the overall product is integrated and well finished. Each person should identify which section they have taken chief responsibility for.

Groups that only have 2 members should divide their work by one student taking responsibility for part 1 and the other part 2, then part 3 should be shared equally. During the oral presentation, only one student should present part 3.


The selected topics will be updated when they have been chosen

Human disease
Relevant mouse models
Skin Gorlin Sydndrome/Basal Cell Nevus Syndrome 109400 PTCH1 K14-Cre Ptc mutants
Craniofacial Treacher-Collins Syndrome 1 154500 TCOF1 Tcof1 mutants
Limb development Split-hand/foot malformation 1 with sensorineural hearing loss 220600 DLX5 Dlx5/6 mutants
Gonadal development Campomelic Dysplasia 114290 SOX9 Sox9 transgenics/LOF mutants
Heart development Holt-Oram Syndrome 142900 TBX5 Tbx5 mutants
Kidney development Polycystic kidney disease, adult type I 173900 PKD1 Pkd1,2 mutants
Multisystemic DiGeorge Syndrome 188400 TBX1 Multiple
Eye Aniridia 106210 PAX6 Small eye (Sey)
Blood Omenn Syndrome 603554 RAG1 and RAG2 Rag1 mutant and Rag2 knockin
Bone Cleidocranial Dysplasia 119600 RUNX2 Runx2 mutant and knockout
Neural tube Neural tube defects including spina bifida 182940 T Tailless Brachyury mutants
Sexual differentiation Androgen Insensitivity Syndrome 300068 AR Tfm mice
Neural Crest Derivatives Waardenburg Syndrome Type 4 277580 EDNRB Endothelin-B receptor mutant