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Lethal Alleles

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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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Updated: Jun 11, 2026

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model

Published on: July 3, 2020

Severe developmental bone phenotype in ClC-7 deficient mice.

A V Neutzsky-Wulff¹, N A Sims, C Supanchart

¹Nordic Bioscience A/S, Herlev, DK-2730, Denmark.

Developmental Biology

|July 6, 2010

Summary

Chloride channel 7 (ClC-7) deficiency in mice causes osteopetrosis due to dysfunctional osteoclasts, resulting in severe bone developmental defects and abnormally large osteoclasts.

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Area of Science:

Bone Biology
Cellular Biology
Developmental Biology

Background:

Bone development relies on chondrocytes, osteoclasts, and osteoblasts.
Osteopetrosis, a bone disease, results from osteoclast dysfunction, leading to increased bone mass.
Chloride channel 7 (ClC-7) deficiency causes osteoclast malfunction by impairing resorption lacuna acidification.

Purpose of the Study:

To investigate the impact of osteoclast malfunction in ClC-7 deficient mice on bone development, structure, and remodeling.
To characterize the bone phenotype associated with ClC-7 deficiency.

Main Methods:

Examination of bones from wildtype, heterozygous, and ClC-7 deficient mice.
Utilized bone histomorphometry and immunohistochemistry techniques.
Assessed bone formation and mineralization through calcein labeling and osteoid deposition analysis.

Main Results:

ClC-7 deficient mice exhibited a severe developmental bone phenotype with increased bone mass and cartilage remnants.
Impaired longitudinal and radial bone growth, with a lack of compact cortical bone development observed.
Abnormally large, non-functional osteoclasts were found, potentially due to increased fusion or prolonged survival.

Conclusions:

Malfunctional ClC-7 deficient osteoclasts lead to severe developmental bone defects, including giant osteoclasts.
Bone formation parameters were reduced, but bone formation and mineralization showed heterogeneous and ongoing activity.
The study highlights the critical role of ClC-7 in osteoclast function and overall bone development.