Phenotypes Associated with This Genotype

Genotype
MGI:3808761

• Allelic Composition: Col2a1^Rgsc856/Col2a1⁺
• Genetic Background: involves: C57BL/6JJcl * DBA/2JJcl

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Skeletal abnormalities in Col2a1^Rgsc856/Col2a1⁺ and Col2a1^Rgsc856/Col2a1^Rgsc856 mice at E18.5

skeleton

skeleton phenotype ( J:171906 )

N • unlike mice with heterozygous for Col2a1^Dmm, mice do not display more severe articular cartilage degeneration compared to age matched controls

short humerus ( J:133634 )

• most heterozygous mutant mice exhibit forelimb rhizomelia, or shortening of the humerus

short radius ( J:133634 )

• in more severe cases, the radius and ulna are affected, as well as the humerus

short ulna ( J:133634 )

• in more severe cases, the radius and ulna are affected, as well as the humerus

short femur ( J:171906 )

vertebral body hypoplasia ( J:171906 )

• slightly hypoplastic

abnormal chondrocyte morphology ( J:171906 )

• in proliferating chondrocytes the rough ER is expanded

abnormal epiphyseal plate morphology ( J:171906 )

• columnar alignment of proliferating chondrocytes is disordered with reduced extracellular matrix spaces

abnormal long bone epiphyseal plate proliferative zone ( J:171906 )

• collagen fibers in the proliferating zone of the femur seem to be slightly less dense

abnormal chondrocyte physiology ( J:171906 )

• expression analysis indicates an increase in ER stress in rib cartilage at E18.5

growth/size/body

decreased fetal size ( J:171906 )

• mildly but significantly smaller than wild-type controls at E18.5

limbs/digits/tail

abnormal forelimb morphology ( J:133634 )

short humerus ( J:133634 )

• most heterozygous mutant mice exhibit forelimb rhizomelia, or shortening of the humerus

short radius ( J:133634 )

• in more severe cases, the radius and ulna are affected, as well as the humerus

short ulna ( J:133634 )

• in more severe cases, the radius and ulna are affected, as well as the humerus

abnormal hindlimb morphology ( J:133634 )

• in severe cases, the hindlimbs are shortened, as well as the forelimbs

short femur ( J:171906 )

short limbs ( J:133634 )

• in severe cases, all four limbs are shortened

micromelia ( J:171906 )