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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...

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Related Experiment Video

Updated: May 9, 2026

Behavioral and Locomotor Measurements Using an Open Field Activity Monitoring System for Skeletal Muscle Diseases

Behavioral and Locomotor Measurements Using an Open Field Activity Monitoring System for Skeletal Muscle Diseases

Published on: September 29, 2014

Langer's mesomelic dysplasia: a case report.

Vineet Aggarwal¹, Neeti Aggarwal, Bargavee Venkat

¹Departments of aOrthopedics bRadiodiagnosis, Indira Gandhi Medical College, Shimla, India.

Journal of Pediatric Orthopedics. Part B

|July 19, 2013

Summary

Langer

Area of Science:

Genetics
Pediatrics
Orthopedics

Background:

Langer's mesomelic dysplasia is a rare genetic disorder causing disproportionate dwarfism.
It is characterized by specific limb shortening and is often diagnosed in childhood or adolescence.

Observation:

Affected individuals typically have normal intellectual capacity and lifespan.
Skeletal deformities are a common reason for seeking medical attention.
Diagnosis relies on clinical examination, anthropometric measurements, and radiological imaging.

Findings:

Plain radiographs and scanograms are key diagnostic tools.
Genetic analysis can confirm mutations in the short stature homeobox (SHOX) gene, common in both Langer's mesomelic dysplasia and Leri-Weill dyschondrosteosis.

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Murine Hind Limb Long Bone Dissection and Bone Marrow Isolation

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Published on: September 29, 2014

Murine Hind Limb Long Bone Dissection and Bone Marrow Isolation

Murine Hind Limb Long Bone Dissection and Bone Marrow Isolation

Published on: April 14, 2016

This report contributes to the limited case data available for this rare syndrome.

Implications:

Accurate diagnosis and understanding of genetic underpinnings are crucial for managing skeletal deformities.
Increased reporting of rare cases like this enhances medical knowledge and diagnostic capabilities.
Further research into SHOX gene-related disorders can improve patient outcomes.