Cure CHD2

Models of CHD2

As part of our "Roadmap to a Cure", we must ensure that any treatment we intend to use in people will be safe, efficacious and has the greatest potential to benefit people living with a CHD2 mutation.

For these reasons, developing models of CHD2 that can be widely shared with the fewest barriers or commercially purchased is a top priority for our community.

Listed below is a growing list of models that can be used as tools for basic biology and translational-preclinical studies of CHD2.

CHD2 human iPSC line available through the European Bank for Induced Pluripotent Stem Cells

iPSC

PFIZi029-A Description: c4636 C>T in exon 36 of the CHD2 gene (NM_001271.3)

CHD2 human stable knockdown cell lines through AcceGen Biotech

Human CHD2 shRNA knockdown in HEK293 or HeLa cells

CHD2 mouse model that has 2 nucleotide deletion in the 3rd exon of CHD2, which leads to production of little to no CHD2 protein.

Dr. Igor Ulitsky has a mouse model that has 2 nucleotide deletions in the 3rd exon of CHD2, which leads to production of little to no CHD2 protein. See his paper for more details: https://www.nature.com/articles/s41467-019-13075-8.pdf

Chd2 mouse alleles available through The International Mouse Phenotyping Consortium and related phenotypic data

Chd2 tm1 targeting vectors and ES cells Allele type: reporter-tagged deletion allele (with selection cassette)

Chd2 tm1a mice, targeting vectors, and ES cells Allele type: KO first allele (reporter-tagged insertion with conditional potential)

Chd2 tm1b mice and tissue available through The Centre for Phenogenomics Allele type: Reporter-tagged deletion allele (post-Cre)

Mice

Chd2 mouse alleles available through Taconic Biosciences, Inc.

Chd2 constitutive knockout Allele type: Gene trap

Chd2 zebrafish line available through The Zebrafish Information Network: MO1-chd2

Chd2 zebrafish line available through UCSF, Scott Baraban Lab https://zebrafishproject.ucsf.edu/chd2

Zebra Fish

CHD2 mutant frog allele with a 22bp deletion within the second chromodomain, though not yet published.

Frog

For inquiries and additional information please contact, Helen Willsey, PhD @ Helen.Willsey@ucsf.edu

Stock will be distributed through the National Xenopus Resource (NXR)

Have you or your loved one been diagnosed with CHD2?

Ongoing Studies

RARE-X Study

Participating in a data collection program is one of the most important things that families with a child with CHD2-related neurodevelopmental disorders can do.

CHD2 In Adults

This study aims to understand seizures, communication and daily living of adults with CHD2 mutations.

Citizen Health

Natural History Studies (NHS) are critical to the drug development process. Citizen Health has developed a new method to make this process easier.

Simons Searchlight

By joining our community and sharing your experiences, you contribute to a growing database used by scientists worldwide to advance the understanding of CHD2.

Videos

You Did Nothing Wrong

Where are the Adults with CHD2?

The Power of Family Foundations