# Single-cell epigenomic phenotyping of IMPC-generated mouse lines lacking chromatin regulators

> **NIH NIH R01** · EMORY UNIVERSITY · 2021 · $719,244

## Abstract

Project Summary/Abstract
The epigenetic machinery is essential for mammalian development, and components of this machinery are
mutated in a variety of human diseases. Hundreds of regulatory proteins participate in the reading, writing, and
erasing of epigenetic information over the lifespan of an organism. However, the in vivo activity of many of these
epigenetic regulators remain inadequately characterized. Here, we leverage IMPC-generated mouse lines
lacking epigenetic regulators, together with recent advances in single-cell epigenomic and transcriptomic
technologies, to interrogate components of the epigenetic machinery in vivo at the molecular level, and with the
cell-type resolution necessary to understand their complex roles in development and disease. The data produced
here will reveal gene regulatory defects caused by loss of epigenetic regulators in a diverse panel of tissues and
cell types relevant to human congenital malformations. This tissue- and cell-type-resolved view of the effects of
mutations in the epigenetic machinery is a critical step in larger efforts to reveal mechanisms of epigenetically-
influenced disease risk, interpret non-coding sequence variation, and ultimately to tailor diagnostics and
therapeutics to the epigenomic and transcriptomic states of a patient’s disease-contributing cells.

## Key facts

- **NIH application ID:** 10211504
- **Project number:** 1R01HD102534-01A1
- **Recipient organization:** EMORY UNIVERSITY
- **Principal Investigator:** David Uscher Gorkin
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $719,244
- **Award type:** 1
- **Project period:** 2021-06-01 → 2026-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10211504

## Citation

> US National Institutes of Health, RePORTER application 10211504, Single-cell epigenomic phenotyping of IMPC-generated mouse lines lacking chromatin regulators (1R01HD102534-01A1). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10211504. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*