ANAT2341 Lab 9 2013
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
Order of Presentations
- Treacher-Collins syndrome
- Campomelic dysplasia
- Cleidocranial dysplasia
- Gorlin syndrome/Basal cell nevus syndrome
Dividing the tasks
The oral and written reports should be divided into 3 equal sections.
- Developmental abnormalities of the disease, diagnosis and human genetics
- Genetics of the relevant mouse mutants and the resulting developmental abnormalities
- 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.
Topics
The selected topics will be updated when they have been chosen
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 |