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Related Concept Videos

Bone Formation by Endochondral Ossification01:24

Bone Formation by Endochondral Ossification

Bone formation, or ossification, begins around the sixth to seventh week of embryonic development. Most bones develop from a cartilaginous template through the process of endochondral ossification. Cartilage formation begins when clusters of mesenchymal cells differentiate into chondrocytes. These chondrocytes proliferate rapidly and secrete an extracellular matrix that becomes encased in a membrane called the perichondrium. The resulting cartilage model provides a template that resembles the...
Changes in the Appendicular Skeleton with Age01:09

Changes in the Appendicular Skeleton with Age

The upper and lower limb initially develops as a small bulge called a limb bud, which appears on the lateral side of the early embryo. The upper limb bud appears near the end of the fourth week of development, with the lower limb bud appearing shortly after.
Initially, the limb buds consist of a core of mesenchyme covered by a layer of ectoderm. The ectoderm at the end of the limb bud thickens to form a narrow crest called the apical ectodermal ridge. This ridge stimulates the underlying...
Bone Formation by Intramembranous Ossification01:29

Bone Formation by Intramembranous Ossification

Intramembranous ossification is one of the two processes involved in the development of bones within an embryo. The flat bones of the face, most of the cranial bones, and the clavicles are formed via this process. During intramembranous ossification, the bones develop directly from sheets of undifferentiated mesenchymal connective tissue.
The process begins when mesenchymal cells in the embryonic skeleton gather together and differentiate into osteogenic cells, which then develop into...
Development of the Limb Synovial Joints01:07

Development of the Limb Synovial Joints

Joints form during embryonic development in conjunction with the formation and growth of the associated bones. The embryonic tissue that gives rise to all bones, cartilage, and connective tissues of the body is called mesenchyme.
The mesenchymal stem cells differentiate into chondrocytes that form the hyaline cartilage, and later the cartilaginous model of the bone. This model further transforms into a bone. This process is known as endochondral ossification.
During development, the limbs...
Bone Remodeling and Repair01:31

Bone Remodeling and Repair

Osteoclasts are cells responsible for bone resorption and remodeling. They originate from hematopoietic progenitor cells present in the bone marrow. Numerous progenitor cells fuse to form multinucleated cells, each with 10-20 nuclei. A single osteoclast has a diameter of 150 to 200 µM. These cells have ruffled borders that break down the underlying bone tissue and release minerals such as calcium into the blood in bone resorption. Osteoclasts cling to bones with their ruffled edges during bone...
Growth of Cartilage and Bone Tissue01:27

Growth of Cartilage and Bone Tissue

Chondrocytes form a temporary cartilaginous model by dividing and secreting a thick gel-like extracellular matrix. Once the chondrocytes undergo programmed cell death, osteoblasts enter the site of the cartilaginous model. The process of replacing the temporary cartilaginous model with bone in an ordered manner is called endochondral ossification. In endochondral ossification, not all of the cartilage is replaced by bone tissue. Some cartilage that performs a protective and supportive function...

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Related Experiment Video

Updated: Jun 8, 2026

Analysis of Cell Differentiation, Morphogenesis, and Patterning During Chicken Embryogenesis Using the Soaked-Bead Assay
06:49

Analysis of Cell Differentiation, Morphogenesis, and Patterning During Chicken Embryogenesis Using the Soaked-Bead Assay

Published on: January 12, 2022

Ofd1 is required in limb bud patterning and endochondral bone development.

Sabrina Bimonte1, Amalia De Angelis, Luca Quagliata

  • 1Telethon Institute of Genetics and Medicine (TIGEM), Via Pietro Castellino 111, Naples, Italy.

Developmental Biology
|October 6, 2010
PubMed
Summary

Oral-facial-digital type I (OFDI) syndrome, caused by ciliary dysfunction, leads to limb malformations. This study shows Ofd1 is crucial for digit patterning and skeletal development, impacting Shh and Ihh signaling pathways.

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Culturing and Measuring Fetal and Newborn Murine Long Bones
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Culturing and Measuring Fetal and Newborn Murine Long Bones

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Chicken Recombinant Limbs Assay to Understand Morphogenesis, Patterning, and Early Steps in Cell Differentiation
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Chicken Recombinant Limbs Assay to Understand Morphogenesis, Patterning, and Early Steps in Cell Differentiation

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Related Experiment Videos

Last Updated: Jun 8, 2026

Analysis of Cell Differentiation, Morphogenesis, and Patterning During Chicken Embryogenesis Using the Soaked-Bead Assay
06:49

Analysis of Cell Differentiation, Morphogenesis, and Patterning During Chicken Embryogenesis Using the Soaked-Bead Assay

Published on: January 12, 2022

Culturing and Measuring Fetal and Newborn Murine Long Bones
06:58

Culturing and Measuring Fetal and Newborn Murine Long Bones

Published on: April 26, 2019

Chicken Recombinant Limbs Assay to Understand Morphogenesis, Patterning, and Early Steps in Cell Differentiation
08:08

Chicken Recombinant Limbs Assay to Understand Morphogenesis, Patterning, and Early Steps in Cell Differentiation

Published on: January 12, 2022

Area of Science:

  • Developmental biology
  • Genetics
  • Cell biology

Background:

  • Oral-facial-digital type I (OFDI) syndrome is a severe X-linked disorder affecting development.
  • It is linked to ciliary dysfunction, impacting facial, oral, and digit formation.
  • The specific role of the Ofd1 transcript in limb development was previously unclear.

Purpose of the Study:

  • To investigate the function of the Ofd1 transcript in limb development.
  • To elucidate the role of Ofd1 in ciliogenesis and skeletal patterning.
  • To understand the molecular mechanisms underlying OFDI syndrome in limb development.

Main Methods:

  • Conditional inactivation of the Ofd1 transcript using Cre lines in mouse models.
  • Immunofluorescence and ultrastructural analysis of limb buds.
  • Assessment of signaling pathways (Shh, Ihh, Gli3) and bone mineralization.

Main Results:

  • Ofd1 is essential for proper ciliogenesis in limb buds, but not cilia outgrowth.
  • Mesenchymal Ofd1 inactivation caused severe polydactyly, disrupted digit patterning, and shortened long bones.
  • Defects were linked to impaired Shh and Ihh signaling, Gli3 processing, and endochondral bone formation.

Conclusions:

  • Ofd1 plays a critical role in regulating digit number and identity during limb and skeletal patterning.
  • This study enhances understanding of primary cilia's functional role in embryonic development.
  • Findings provide insights into the pathogenesis of OFDI syndrome and related ciliopathies.