Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Disorganization in mice and humans.

N H Robin1, J H Nadeau

  • 1Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals of Cleveland, Cleveland, Ohio, USA.

American Journal of Medical Genetics
|July 27, 2001
PubMed
Summary

Disorganization (Ds) is a mouse mutant causing variable birth defects, often affecting paired structures asymmetrically. This genetic mutation may underlie more common human developmental anomalies.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Genetic control of obesity, glucose homeostasis, dyslipidemia and fatty liver in a mouse model of diet-induced metabolic syndrome.

International journal of obesity (2005)·2015
Same author

Sixteenth-century German woodcut of a male infant with possible disorganization.

Clinical genetics·2015
Same author

Spontaneous metastasis in mouse models of testicular germ-cell tumours.

International journal of andrology·2011
Same author

Genomic survey of prepulse inhibition in mouse chromosome substitution strains.

Genes, brain, and behavior·2009
Same author

A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus.

Human genetics·2006
Same author

A variant of osteogenesis imperfecta type IV with resolving kyphomelia is caused by a novel COL1A2 mutation.

Journal of medical genetics·2002

Area of Science:

  • Developmental biology
  • Genetics
  • Teratology

Background:

  • Disorganization (Ds) is an autosomal dominant mouse mutant.
  • It exhibits a highly variable phenotype with reduced penetrance, affecting paired structures asymmetrically.
  • Characteristic anomalies include skin papillae and limb duplications.

Purpose of the Study:

  • To investigate the phenotypic spectrum of the Disorganization (Ds) mouse mutant.
  • To explore the potential for a human homologue of Ds.
  • To understand the genetic basis of sporadic human birth defects.

Main Methods:

  • Phenotypic analysis of Ds mice.
  • Comparison of Ds anomalies with human birth defects.
  • Review of existing literature on Ds and related conditions.

Main Results:

  • Ds mice display a wide range of birth defects, with no two phenotypes identical.
  • Reduced penetrance (85-99%) means most Ds mice show no anomalies.
  • Unusual defects like skin papillae and mirror-image limb duplications are characteristic but represent one end of the spectrum.

Conclusions:

  • The Ds mutation's variable expressivity suggests it could be the genetic basis for a broader range of human birth defects.
  • The study highlights the potential link between unusual mouse mutations and common human developmental disorders.
  • Further research is needed to identify the Ds gene and its role in development.

Related Experiment Videos