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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 (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• disproportionately (J:187141)
• disproportionately (J:187141)
• osteophyte-like features on the ulna (J:187141)
• osteophyte-like features on the ulna (J:187141)
• reduced trabecular bone in the metaphysis below the displaced growth plate (J:187141)
• reduced trabecular bone in the metaphysis below the displaced growth plate (J:187141)
• shorter and wider (J:187141)
• shorter and wider (J:187141)
• in the humerus likely due to increased mechanical loading (J:187141)
• in the humerus likely due to increased mechanical loading (J:187141)
• increased structural modeling index (J:187141)
• reduced trabecular bone in the metaphysis below the displaced growth plate (J:187141)
• increased structural modeling index (J:187141)
• reduced trabecular bone in the metaphysis below the displaced growth plate (J:187141)
• contains chondrocytes with multiple distended cytoplasmic vacuoles, increased ratio of the number of cells with chondroptotic nuclei and enlarged endoplasmic reticulum with amorphous inclusions (J:187141)
• contains chondrocytes with multiple distended cytoplasmic vacuoles, increased ratio of the number of cells with chondroptotic nuclei and enlarged endoplasmic reticulum with amorphous inclusions (J:187141)
• contains chondrocytes with multiple distended cytoplasmic vacuoles, increased ratio of the number of cells with chondroptotic nuclei and enlarged endoplasmic reticulum with amorphous inclusions (J:187141)
• contains chondrocytes with multiple distended cytoplasmic vacuoles, increased ratio of the number of cells with chondroptotic nuclei and enlarged endoplasmic reticulum with amorphous inclusions (J:187141)
• abnormal joint between the humerus, ulna and radius with restricted articulation and osteophyte-like features (J:187141)
• abnormal joint between the humerus, ulna and radius with restricted articulation and osteophyte-like features (J:187141)
• flattened by P26 with reduced distance between the articular cartilage and the proximal humeral growth plate (J:187141)
• displacement of the proximal humeral epiphysis and bridging of the growth plate at 9 to 12 weeks (J:187141)
• premature closure by P56 (J:187141)
• flattened by P26 with reduced distance between the articular cartilage and the proximal humeral growth plate (J:187141)
• displacement of the proximal humeral epiphysis and bridging of the growth plate at 9 to 12 weeks (J:187141)
• premature closure by P56 (J:187141)
• impaired chondrocyte development (J:187141)
• impaired chondrocyte development (J:187141)
• loss of growth plate polarity and organization by P14 (J:187141)
• growth plates lack columns of proliferating chondrocytes and hypertrophic chondrocytes (J:187141)
• wider at P28 and P56 (J:187141)
• loss of growth plate polarity and organization by P14 (J:187141)
• growth plates lack columns of proliferating chondrocytes and hypertrophic chondrocytes (J:187141)
• wider at P28 and P56 (J:187141)
• the ossification zone is shorter than in control mice by P26 (J:187141)
• the ossification zone is shorter than in control mice by P26 (J:187141)
• impaired formation of secondary ossification centers by P14 (J:187141)
• impaired formation of secondary ossification centers by P14 (J:187141)
• abnormal joint between the humerus, ulna and radius with restricted articulation and osteophyte-like features (J:187141)
• abnormal joint between the humerus, ulna and radius with restricted articulation and osteophyte-like features (J:187141)

growth/size/body

craniofacial

limbs/digits/tail
• disproportionately (J:187141)
• disproportionately (J:187141)
• osteophyte-like features on the ulna (J:187141)
• osteophyte-like features on the ulna (J:187141)

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
02/02/2016
MGI 6.02
The Jackson Laboratory