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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...

Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

Dosage Compensation

Dosage Compensation

In animals, gender is determined by the number and type of sex chromosome. For example, human females have two X chromosomes, and males have one X and one Y chromosome, whereas C.elegans with one X chromosome is a male, and the one with two X chromosomes is a hermaphrodite.
In addition to sexual development, the X chromosome has genes involved in autosomal functions such as brain development and the immune system. Therefore, males and females with distinct numbers of X chromosomes will...

The Ratio of X Chromosome to Autosomes

The Ratio of X Chromosome to Autosomes

In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...

X-Inactivation

X-Inactivation

The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.

Hedgehog Signaling Pathway

Hedgehog Signaling Pathway

The Hedgehog gene (Hh) was first discovered due to its control of the growth of disorganized, hair-like bristles phenotype in Drosophila, much like hedgehog spines. Hh plays a crucial role in the development of organs and the maintenance of homeostasis in both invertebrates and vertebrates. However, while Drosophila has only one Hh protein, mammals have multiple functional Hedgehog proteins - Sonic (Shh), Desert (Dhh), and Indian Hedgehog (Ihh). All of these homologous proteins have adapted to...

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Related Experiment Video

Updated: Sep 21, 2025

Dissection of the Auditory Bulla in Postnatal Mice: Isolation of the Middle Ear Bones and Histological Analysis

Dissection of the Auditory Bulla in Postnatal Mice: Isolation of the Middle Ear Bones and Histological Analysis

Published on: January 4, 2017

Loxl2 and Loxl3 Paralogues Play Redundant Roles during Mouse Development.

Patricia G Santamaría^1,2,3, Pierre Dubus^4,5, José Bustos-Tauler^1,2

¹Departamento de Bioquímica, Instituto de Investigaciones Biomédicas Alberto Sols, Universidad Autónoma de Madrid, CSIC-UAM, 28029 Madrid, Spain.

International Journal of Molecular Sciences

|May 28, 2022

Summary

Lysyl oxidase-like 3 (LOXL3) knockout mice show developmental defects and lethality. Lysyl oxidase-like 2 (LOXL2) can compensate for LOXL3 loss, indicating overlapping functions in mouse development.

Keywords:

Loxl2 Loxl3 embryonic lethality epistasis analysis lysyl oxidases

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Last Updated: Sep 21, 2025

Dissection of the Auditory Bulla in Postnatal Mice: Isolation of the Middle Ear Bones and Histological Analysis

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Published on: January 4, 2017

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Published on: November 1, 2007

Stem cell-like Xenopus Embryonic Explants to Study Early Neural Developmental Features In Vitro and In Vivo

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Published on: February 2, 2016

Area of Science:

Biochemistry
Developmental Biology
Genetics

Background:

Lysyl oxidase-like 2 (LOXL2) and 3 (LOXL3) are enzymes crucial for extracellular matrix maturation.
Their conserved catalytic domains suggest potential functional redundancy, but this remains unconfirmed in vivo.

Purpose of the Study:

To investigate the in vivo functions of LOXL3 and its relationship with LOXL2 during mouse development.
To determine if LOXL2 and LOXL3 have overlapping roles in embryonic development.

Main Methods:

Generation and analysis of Loxl3 knockout mice.
Genotyping of embryos with double knockout of Loxl2 and Loxl3 genes.
Assessment of LOXL2's ability to rescue Loxl3 knockout phenotypes.

Main Results:

Loxl3 knockout mice exhibit perinatal lethality and abnormal skeletal development.
Double knockout of Loxl2 and Loxl3 suggests overlapping functions in mouse development.
Ubiquitous expression of Loxl2 rescues the lethality in Loxl3 knockout mice.

Conclusions:

LOXL3 is essential for normal mouse development, particularly skeletal formation.
LOXL2 and LOXL3 possess overlapping functions during embryonic development.
LOXL2 can functionally compensate for the loss of LOXL3.