Frequently Asked Questions
- What is Phenomics?
- What is the advantage of Phenomics over traditional research strategies?
- What does the APN do?
- How much do APN Services cost?
- How do I get in contact with each node?
- How do I know who to contact at each node?
- Why do you use mice?
- What is ENU?
- Who can use this network?
1. What is Phenomics?
Phenomics is the study of phenotypes. A phenotype is defined as the outward appearance of an individual, and is the product of interactions between genes, and between the genotype of the individual and the environment. Phenomics is a forward genetic approach where researchers start with a particular trait or phenotype and discover the causal gene.
2. What is the advantage of Phenomics over traditional research strategies?
Often traditional strategies start by looking at a specific gene with an unknown function. With a phenomics approach, we look for phenotypic changes and then find the cause. Advantages of phenomics approach include:
Understanding causal relationships between genes and traits.
Dissecting protein functions: ~60% of variants are mis-sense alleles with single amino acid substitutions in specific domains.
Revealing completely unknown components and mechanisms.
Revealing different mechanisms compared to knocking out entire gene (Protein Domain specific effects)
Allows the researcher to focus on his/her relevant disease or pathway relevant gene variants: sets of gene variant families clustered on a specific process shapes view of process.
Develop pre-clinical animal models of human disease
3. What does the APN do?
The APN provides Australian researchers access to 3 services:
1. International sources of new mouse models and phenotype data derived from gene-trap Embryonic Stem (ES) cells or similar and phenotyping infrastructure (see ‘Mouse Models’ page ES Cell to Mouse)
2. Australian collections of new mouse models and phenotype data from ethyl nitrosourea (ENU) mutant mouse collections or similar and phenotyping infrastructure (see ‘Mouse Models’ pages Dominant ENU and Recessive ENU)
3. Infrastructure for archiving and exchange mouse models as frozen sperm or embryos and an integrated e-science infrastructure for capturing, annotating and disseminating data on mouse models and phenotypes (see ‘Mouse Models’ pages Pathology and Centralised Cryopreservation)
4. How much do APN Services cost?
This depends on what sort of services you require. See the required service on the ‘Services’ page for information on the cost of each service. If you require more details, let us know at contact@australianphenomics.org.au.
5. How do I get in contact with each node?
To keep things simple, we ask that all questions be sent to the contact person, via contact@australianphenomics.org.au so that the emails can be sent onto the correct person. Your email will be passed onto the best available person who can answer your question.
6. How do I know who to contact at each node?
See question 5.
7. Why do you use mice?
Mice are ideal for deciphering how the mammalian genome translates into the phenome as their gene sets match up almost perfectly with the human genome. Mice can be easily inbred into large family sizes with identical genomes so that variation in a gene that alters their phenotype can be found. These gene variant mice can be expanded in a controlled environment (removing the influence of changing environment on the phenotypes) and are easily studied by further cell experimental analysis allowing the discovery of mechanism from gene alteration to phenotype that cannot be carried out in humans.
8. What is ENU?
ENU stands for Ethyl-Nitrosourea, and is used for the random mutation of DNA.
9. Who can use this network?
The APN will be open to use by both publically funded and private sector researchers. The APN will deliver services at marginal rates for meritorious researchers on a first-come, first served basis.