Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Lethal Alleles

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...

You might also read

Related Articles

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

Sort by

Same author

<i>Arabidopsis</i> YEATS domain proteins facilitate DNA double-strand break repair via homology-directed pathways.

Proceedings of the National Academy of Sciences of the United States of America·2026

Same author

Endogenous stimuli-responsive intelligent drug delivery systems: recent advances in cleavable linker design.

Chemical communications (Cambridge, England)·2026

Same author

Designer <i>π</i>-magnetism in magnetic graphene nanostructures: advances and future perspectives.

National science review·2026

Same author

RSL4-regulated transcription and ROP signaling coordinate root hair growth via BOUNDARY OF ROP DOMAIN proteins.

The Plant cell·2026

Same author

Low-cost chip-scale spectrometer enabled by equal-thickness interference spectral encoding.

Optics letters·2026

Same author

Measurement technology of complex permittivity based on split resonant cavity and hybrid field solution.

The Review of scientific instruments·2026

Same journal

Why microglial repair programs fade.

Cell research·2026

Same journal

Atypical signaling, ligand recognition and selective agonist discovery of complement receptor C5aR2.

Cell research·2026

Same journal

One drug, five targets.

Cell research·2026

Same journal

Smooth emotional response: amygdalar neurovascular coupling drives stress encoding.

Cell research·2026

Same journal

Liquid surrogates of spatial tumor ecosystems.

Cell research·2026

Same journal

MitoCatch directs mitochondria delivery and prevents cell degeneration.

Cell research·2026

See all related articles

Search research articles

Related Experiment Video

Updated: May 26, 2026

A Pipeline to Characterize Structural Heart Defects in the Fetal Mouse

A Pipeline to Characterize Structural Heart Defects in the Fetal Mouse

Published on: December 16, 2022

Defective heart development in hypomorphic LSD1 mice.

Thomas B Nicholson¹, Hui Su¹, Sarah Hevi¹

¹1] Developmental and Molecular Pathways, Novartis Institutes for BioMedical Research, Cambridge, MA 02139, USA [2] Epigenetics Program, Novartis Institutes for BioMedical Research, Cambridge, MA 02139, USA.

|December 7, 2011

Summary

This summary is machine-generated.

Lysine-specific demethylase 1 (LSD1) mutations impairing protein interactions cause perinatal death in mice due to heart defects. This study reveals LSD1

More Related Videos

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods

Published on: March 10, 2020

Light-sheet Fluorescence Microscopy to Capture 4-Dimensional Images of the Effects of Modulating Shear Stress on the Developing Zebrafish Heart

Light-sheet Fluorescence Microscopy to Capture 4-Dimensional Images of the Effects of Modulating Shear Stress on the Developing Zebrafish Heart

Published on: August 10, 2018

Related Experiment Videos

Last Updated: May 26, 2026

A Pipeline to Characterize Structural Heart Defects in the Fetal Mouse

A Pipeline to Characterize Structural Heart Defects in the Fetal Mouse

Published on: December 16, 2022

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods

Published on: March 10, 2020

Light-sheet Fluorescence Microscopy to Capture 4-Dimensional Images of the Effects of Modulating Shear Stress on the Developing Zebrafish Heart

Light-sheet Fluorescence Microscopy to Capture 4-Dimensional Images of the Effects of Modulating Shear Stress on the Developing Zebrafish Heart

Published on: August 10, 2018

Area of Science:

Biochemistry
Developmental Biology
Genetics

Background:

Lysine-specific demethylase 1 (LSD1) is crucial for embryogenesis, demethylating histone and non-histone proteins.
LSD1 interacts with various proteins via its tower domain, but the role of these interactions in development is unclear.

Purpose of the Study:

To investigate the role of LSD1's tower domain interactions in mouse development.
To characterize the functional consequences of mutations within the LSD1 tower domain.

Main Methods:

Generated a hypomorphic LSD1 allele with point mutations in the tower domain.
Analyzed homozygous mutant mice for developmental defects, focusing on cardiac phenotypes.
Performed transcriptional profiling of affected hearts.

Main Results:

Mutant mice exhibited perinatal lethality with a high incidence of ventricular septal defects.
LSD1 mutations reduced protein interactions and enzymatic activity.
Observed altered gene expression in hearts, including increased calmodulin kinase 2 beta (CK2β).
CK2β increase correlated with E-cadherin hyperphosphorylation.

Conclusions:

LSD1 plays a critical, previously unrecognized role in heart development.
LSD1's function in heart development may involve regulating E-cadherin phosphorylation.