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Phenotypes Associated with This Genotype
Genotype
MGI:5441253
Allelic
Composition
Col2a1Lpk/Col2a1+
Genetic
Background
involves: C3H/HeH * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col2a1Lpk mutation (3 available); any Col2a1 mutation (35 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• disproportionately
• osteophyte-like features on the ulna
• reduced trabecular bone in the metaphysis below the displaced growth plate
• shorter and wider
• in the humerus likely due to increased mechanical loading
• increased structural modeling index
• reduced trabecular bone in the metaphysis below the displaced growth plate
• contains chondrocytes with multiple distended cytoplasmic vacuoles, increased ratio of the number of cells with chondroptotic nuclei and enlarged endoplasmic reticulum with amorphous inclusions
• contains chondrocytes with multiple distended cytoplasmic vacuoles, increased ratio of the number of cells with chondroptotic nuclei and enlarged endoplasmic reticulum with amorphous inclusions
• abnormal joint between the humerus, ulna and radius with restricted articulation and osteophyte-like features
• flattened by P26 with reduced distance between the articular cartilage and the proximal humeral growth plate
• displacement of the proximal humeral epiphysis and bridging of the growth plate at 9 to 12 weeks
• premature closure by P56
• impaired chondrocyte development
• loss of growth plate polarity and organization by P14
• growth plates lack columns of proliferating chondrocytes and hypertrophic chondrocytes
• wider at P28 and P56
• the ossification zone is shorter than in control mice by P26
• impaired formation of secondary ossification centers by P14
• abnormal joint between the humerus, ulna and radius with restricted articulation and osteophyte-like features

growth/size/body

craniofacial

limbs/digits/tail
• disproportionately
• osteophyte-like features on the ulna

Mouse Models of Human Disease
OMIM ID Ref(s)
Spondyloepiphyseal Dysplasia Congenita; SEDC 183900 J:187141


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory