Australian Phenomics Facility
Additionally, the ANU provides a number of infrastructure services across the spectrum of APN activity, delivered from its state-of-the-art Australian Phenomics Facility. The Australian Phenomics Facility provides:
The development of efficient and reliable ways to make precise, targeted changes to the genome is a long-standing goal for biomedical researchers, and the mouse remains the mammalian species of choice when attempting to characterise gene function and human disease.
Recent developments in the use of the CRISPR/Cas9 genome editing system have established an exciting new tool by which to target and modify the mouse genome. Genome modifications can be made by direct injection into fertilized mouse oocytes, resulting in the rapid and efficient generation of founder mice (F0).
The Clustered Regularly Interspaced Short Palindromic Repeats – CRISPR Type II system is currently the most utilised RNA-Guided Endonuclease technology for genome engineering. There are two components to this system:(1) a guide RNA [gRNA] and (2) the CRISPR associated (Cas) nuclease [Cas9].
The gRNA/Cas9 complex is recruited to the target sequence by the base-pairing between the gRNA sequence and the complement of the target sequence in genomic DNA. For successful binding of Cas9, the genomic target sequence must also contain the correct Protospacer Adjacent Motiff (PAM) sequence immediately following the target sequence. Binding of the gRNA/Cas9 complex to the genomic target sequence localizes the Cas9 so that the wild-type Cas9 cuts both strands of DNA causing a double strand break. Such breaks can be repaired through: (1) Non-Homologous End Joining (NHEJ) DNA repair or (2) Homology Directed Repair (HDR). NHEJ repair can result in inserts/deletions (InDels) at the break site leading to frameshifts and/or premature stop codons. HDR requires the presence of a repair template, which copies the sequence of the template to the cut target sequence. Specific nucleotide changes can be introduced into a targeted gene by the use of HDR and a repair template.
Dr Gaetan Burgio
P: +61 2 6125 9428
Collaborative Cross Mice
The APF offers the unique collection of Collaborative Cross animals as generated by a consortium of groups since 2004. The Collaborative Cross animals were developed to investigate multigenic traits not impacted by the stringent breeding controls in commonly used inbred lines.
Imported from the University of North Carolina, we currently have approximately 30 lines available. Orders must be placed in advance to allow for breeding of animals to supply levels.
For more information on the Collaborative Cross see http://csbio.unc.edu/CCstatus/index.py
Special Introductory Pricing: $50 per animal (Prices subject to change, this is an introductory price only correct as of 30th August 2016).
Please note the APN does not currently offer the distribution of the parental lines which you may like to utilise for control purposes. You may contact UNC or Jax for importing these lines or APN may be able to provide Quarantine Services for the importation of these lines if required. Please contact us for more information
The APF can also provide phenotyping services on the Collaborative Cross lines at its facility.
Dr Suzanne Fowler
P: +61 2 6125 5529
Missense Mutation Library
The MML has evolved from the ENU Mutagenesis service and is available as an accessible collection.
The ENU gene variant collection uses the alkylating agent N-ethyl-N-nitrosourea (ENU) to induce random point mutations in the mouse genome that can be highly reflective of human monogenic (single gene) diseases. The APN produces a diverse experimental mouse resource of missense gene variants, where that genetic variation can be limited on an otherwise inbred strain background and where the tools of experimental biology can be applied to full effect. Many missense mutations produced by ENU yield unique counterparts of human variation
Dr Ed Bertram
P: + 61 2 6125 1328
P: +61 2 6125 8882
At the APF, we combine high throughput sequencing with quality bioinformatics to provide a quantum leap in mammalian phenomics. Single Nucleotide Polymorphism (SNP) detection for causal mutation identification in mouse variant strains employs exome capture and massively parallel DNA sequencing on an Illumina platform. The accelerated rate at which users can now identify DNA variants greatly increases a researcher’s access to useful mouse models of human disease.
P: +61 2 6125 9637
Scientific Project Management and Phenotyping
The APF’s Scientific Programs Team combines scientific expertise, project management as well as laboratory-based expertise to undertake complex research investigations for the research community. Managing a phenotyping screen or a range of assays around a particular cohort of samples or patients requires a meeting of minds as to the scientific intent and high standards of quality data production. Our teams regularly manage the production of gene variant mice (CRISPR/ENU,) and coordinate and perform demanding phenotyping assays and provide a range of data management and analysis expertise and services.
A project manager will discuss your requirements and once this is worked out will provide a work schedule and costing for your approval. Full reports will be provided as the work is undertaken and the assigned project officer is always available for follow up questions or adjustments to the work program.
Australian Phenome Bank
The Australian Phenome Bank is both a physical repository and a database. Based at ANU and operated in partnership with Monash and the ARC, the APB provides essential banking and distribution of mouse strains in Australia. It safeguards and maximises the value of the enormous investment in creating mouse strains for medical research.
Dr Stuart Read
P: +61 2 6125 1324
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