# ALBINO-DELETION COMPLEX AND EARLY MOUSE DEVELOPMENT

> **NIH NIH R01** · CASE WESTERN RESERVE UNIVERSITY · 1994 · $199,386

## Abstract

The long-term goal of this proposal is to understand the molecular basis
for the genetic control of mammalian development.  The albino-deletion
complex represents one of few regions of the mouse genome where a set of
specific developmental defects are associated with a series of overlapping
chromosomal deletions.  A total of 37 deletions exist, all of which remove
the region of mouse chromosome 7 that surrounds and includes the albino
coat color locus.  The complementation patterns among these deletion
chromosomes indicate hat at least 9 distinct genetic units exist in this
region.  Four of these units are needed for normal embryonic development
during the preimplantation or early postimplantation stages.  The work
proposed here will concentrate on a molecular genetic analysis of two of
these units, each of which is known to contain a gene(s) whose expression
is required during the time that the basic body plan is being established
in the early postimplantation mouse embryo.  The homozygous (null) lethal
phenotype associated with deletions that remove this areal has been
determined and molecular markers for this region have been generated by
chromosome microdissection and microcloning.  Chromosome walking and
pulsed-field gel electrophoresis will be used to isolate and physically map
additional markers.  Transcription units will be identified by screening
cDNA libraries made from early postimplantation embryos and also by
NOrthern blot analysis using RNA from embryo-derived stem cells.  Once a
transcription unit has been identified, its tissue- and stage-specific
pattern of expression will be determined either by Northern blot analysis
or by in situ hybridization to tissue sections.  A molecular
characterization of cDNAs and corresponding genomic sequences will be done
with the purpose of identifying putative protein coding regions, direction
of transcription, 5' and 3' ends, and intron/exon boundaries.  Antibodies
will be made to synthetic peptides with the purpose of locating the protein
product in the embryo.  Transgenic mice will be produced to determine if
any of the identified transcription units can complement the homozygous
defect.  Analysis of the lethal phenotype associated with the e=homozygous
state of the five deletions of interest will be extended by examining
specific gene expression in mutant embryos.  Homeobox gene expression in
wild-type mouse embryos has been extensively studied, and it is known that
some of these genes begin to be expressed at a time which is coincident
with the appearance of abnormalities in the homozygous individuals.
Therefore, by determining the pattern of homeobox gene expression in the
mutant embryos, a more accurate assessment of their developmental potential
can be made.

## Key facts

- **NIH application ID:** 2199186
- **Project number:** 5R01HD024462-05
- **Recipient organization:** CASE WESTERN RESERVE UNIVERSITY
- **SAM.gov UEI:** HJMKEF7EJW69
- **Principal Investigator:** TERRY MAGNUSON
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 1994
- **Award amount:** $199,386
- **Award type:** 5
- **Project period:** 1989-12-01 → 1994-11-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/2199186

## Citation

> US National Institutes of Health, RePORTER application 2199186, ALBINO-DELETION COMPLEX AND EARLY MOUSE DEVELOPMENT (5R01HD024462-05). Retrieved via MORVS 2026-10-25 from https://api.morvs.ai/grant/nih/2199186. Licensed CC0.

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