# GENETICS OF LINEAGE DETERMINATION DURING EMBRYOGENESIS

> **NIH NIH R01** · JACKSON LABORATORY · 1994 · $272,113

## Abstract

The genetic control of pattern formation during embryogenesis and the
genetic basis for sporadic congenital anomalies are two important problems
in mammalian developmental genetics.  An unusual mouse mutation called
disorganization (Ds) provides an exceptional model for studying both
problems. Ds disrupts the orderly processes of development and causes an
exceptional variety of birth defects involving all three germ layers and
most body parts.  These defects include aplasia, malformation, or ectopic
development of many body structures.  Many of these appear to result from
problems in establishing symmetry, perhaps by causing mirror-image
duplications.  Highly variable expression and very low penetrance found in
mice with the Ds mutation are characteristic of many sporadic congenital
anomalies in humans. The long-term goal is to use Ds as a model for
studying pattern formation and factors that contribute to many sporadic
birth defects.

Three specific aims will be used to accomplish these goals:
Specific Aim I Complete the genetic and physical map of the Ds locus.
These maps are the foundation for identifying candidate genes.

Specific Aim 2 Identify and characterize candidate genes by finding and
genetically mapping transcribed sequences and by characterizing their
expression patterns.

Specific Aim 3 Test whether Ds affects pattern formation by causing
symmetrical anomalies (e.g. mirror-image or parallel duplications). Mouse
mutants that cause syndactylies or polydactylies will be used to mark
specific digits. The occurrence and location of these digit anomalies will
be examined in mice that are heterozygous (or homozygous) both for Ds and
for each of these other mutations. We will also test whether Ds and these
other loci are in the same developmental pathway by determining whether
novel congenital anomalies occur in double heterozygotes (or homozygotes).

## Key facts

- **NIH application ID:** 2199523
- **Project number:** 2R01HD025389-04A2
- **Recipient organization:** JACKSON LABORATORY
- **SAM.gov UEI:** XR6LMXNKDJJ1
- **Principal Investigator:** JOSEPH H. NADEAU
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 1994
- **Award amount:** $272,113
- **Award type:** 2
- **Project period:** 1989-04-01 → 1994-11-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/2199523

## Citation

> US National Institutes of Health, RePORTER application 2199523, GENETICS OF LINEAGE DETERMINATION DURING EMBRYOGENESIS (2R01HD025389-04A2). Retrieved via MORVS 2026-10-25 from https://api.morvs.ai/grant/nih/2199523. Licensed CC0.

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