# Understanding Ciliary Functions in Mammalian Development

> **NIH NIH R01** · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · 2020 · $591,040

## Abstract

Project Summary/Abstract
 Many cells possess projections from their surfaces called cilia. Mouse genetics has been instrumental in
uncovering novel requirements for cilia in development, such as left/right axis specification, and skeletal and
neural tube patterning. During mammalian development, cilia generate and sense flow, and interpret
intercellular cues, such as Hedgehog signals. Defects in ciliary function in humans cause diverse diseases
known as ciliopathies. Despite the importance of the cilium, fundamental aspects of ciliary biology, including
how cilia are constructed, how they signal, and how they coordinate diverse developmental events, remain
poorly understood.
 To illuminate answers to these longstanding questions, we propose to make use of a unique resource,
the knockout mouse mutant strains being created by the International Mouse Phenotyping Consortium (IMPC).
We have developed an innovative algorithm and demonstrated that it can identify mutant lines for which ciliary
analysis will be valuable. We will use this algorithm to select mutants, and use these mutants to answer three
complementary questions about cilia:
 1) How are the sophisticated structures and subdomains of cilia built and contribute to ciliary function?
 2) How is ciliary motility established and regulated?
 3) How do cilia transduce intracellular signals, such as Hedgehog signals, and how does loss of this
 intercellular communication contribute to the pathogenesis of ciliopathies?
 To address these questions, we will combine advanced imaging approaches, including super-resolution
microscopy, micro-computed tomography, with novel genetic tools such as transgenes that label cilia with GFP.
The expertise accrued during our combined 25 years working on cilia in mouse development will allow us to
use the novel mouse mutants to uncover novel principles underlying ciliogenesis and ciliary signaling. These
discoveries will help identify the causative genes for orphan diseases, and illuminate the developmental origins
of human ciliopathies.

## Key facts

- **NIH application ID:** 9822985
- **Project number:** 5R01HD089918-04
- **Recipient organization:** UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
- **Principal Investigator:** Jeremy F Reiter
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $591,040
- **Award type:** 5
- **Project period:** 2016-12-10 → 2021-11-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9822985

## Citation

> US National Institutes of Health, RePORTER application 9822985, Understanding Ciliary Functions in Mammalian Development (5R01HD089918-04). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/9822985. Licensed CC0.

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