# Gene assignment for and initial immunogenetic characterization of the curly whiskers (cw) mutation in mice.

> **NIH NIH R03** · CENTRAL CONNECTICUT STATE UNIVERSITY · 2020 · $68,023

## Abstract

Project Summary/Abstract
 The recessive “curly whiskers” (cw) mutations in mice impact hair morphology, and one allele
(cwthd) has been previously shown to also generate a single-gene, dominantly-inherited barrier to
graft transplantation. However, a modern, molecular-genetic assessment of these variants has been
lacking because: 1) the cwthd allele is no longer extant, and 2) no causative gene has yet been
assigned to this fascinating and pleiotropic locus. To overcome these obstacles, we have made two
recent advances. First, we have used a positional approach to provisionally assign an mRNA splicing
defect in the hephaestin-like 1 gene (Hephl1) to the original, spontaneous cw allele. Second, we
have established a segregating, congenic strain that will allow direct evaluation of cw as a minor
histocompatibility (H) locus. From this platform we now propose short-term experiments designed:
1) to confirm our assignment of the cw mutation to the Hephl1 gene, and 2) to test, initially by skin-
graft exchange assay, whether cw (like the cwthd mutation) can generate a barrier to graft
compatibility. These experiments, while primarily focusing on the cw allele we currently possess, will
also include an independent, spontaneous allele of cw we are in the process of importing (cw2J), and
at least one engineered Hephl1 variant. The research we propose here also promises to enhance
research activity at CCSU (by providing undergraduate and master’s-level students with a variety of
defined, entry-level projects), and to set-the-stage for a longer-term developmental and
immunogenetic characterization of the set of curly whiskers variants we propose to assemble—and
the orthologous human disorder(s) they may model.

## Key facts

- **NIH application ID:** 9881251
- **Project number:** 5R03AI144350-02
- **Recipient organization:** CENTRAL CONNECTICUT STATE UNIVERSITY
- **Principal Investigator:** THOMAS R KING
- **Activity code:** R03 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $68,023
- **Award type:** 5
- **Project period:** 2019-03-01 → 2022-02-28

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9881251

## Citation

> US National Institutes of Health, RePORTER application 9881251, Gene assignment for and initial immunogenetic characterization of the curly whiskers (cw) mutation in mice. (5R03AI144350-02). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/9881251. Licensed CC0.

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