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Journal of Undergraduate Research

Keywords

osteoarthritis, mice, semi-dominant mutation, Col2A1, Dmm, disproportionate micromelia mice

College

Life Sciences

Department

Physiology and Developmental Biology

Abstract

Mice heterozygous for the semi-dominant mutation disproportionate micromelia (Dmm) express mild chondrodysplasia by three weeks postnatally. This phenotype is attributed to a deletion of three contiguous nucleotides within the Col2A1 gene on mouse chromosome 15. The phenotype of Dmm/+ mice resembles that of human Stickler syndrome, which can be caused by mutations in the human COL2A1 gene.

Included in

Physiology Commons

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