Phenotypes Associated with This Genotype

Genotype
MGI:5441253

• Allelic Composition: Col2a1^Lpk/Col2a1⁺
• Genetic Background: involves: C3H/HeH * C57BL/6J

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

skeleton

abnormal elbow joint morphology ( J:187141 )

• abnormal joint between the humerus, ulna and radius with restricted articulation and osteophyte-like features

abnormal limb long bone morphology ( J:187141 )

short humerus ( J:187141 )

• disproportionately

abnormal ulna morphology ( J:187141 )

• osteophyte-like features on the ulna

short ulna ( J:187141 )

short femur ( J:187141 )

short tibia ( J:187141 )

abnormal long bone metaphysis morphology ( J:187141 )

• reduced trabecular bone in the metaphysis below the displaced growth plate

short lumbar vertebrae ( J:187141 )

• shorter and wider

abnormal bone structure ( J:187141 )

decreased bone mineral density ( J:187141 )

decreased bone volume ( J:187141 )

increased compact bone thickness ( J:187141 )

• in the humerus likely due to increased mechanical loading

abnormal trabecular bone morphology ( J:187141 )

• increased structural modeling index

• reduced trabecular bone in the metaphysis below the displaced growth plate

decreased trabecular bone volume ( J:187141 )

decreased bone trabecula number ( J:187141 )

abnormal cartilage morphology ( 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

abnormal chondrocyte morphology ( 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

abnormal skeleton development ( J:187141 )

abnormal long bone epiphysis morphology ( J:187141 )

• 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

abnormal cartilage development ( J:187141 )

• impaired chondrocyte development

abnormal epiphyseal plate morphology ( J:187141 )

• loss of growth plate polarity and organization by P14

• growth plates lack columns of proliferating chondrocytes and hypertrophic chondrocytes

• wider at P28 and P56

abnormal long bone epiphyseal ossification zone morphology ( J:187141 )

• the ossification zone is shorter than in control mice by P26

decreased width of hypertrophic chondrocyte zone ( J:187141 )

disorganized long bone epiphyseal plate ( J:187141 )

abnormal skeleton physiology ( J:187141 )

abnormal bone ossification ( J:187141 )

• impaired formation of secondary ossification centers by P14

delayed endochondral bone ossification ( J:187141 )

abnormal joint mobility ( J:187141 )

• abnormal joint between the humerus, ulna and radius with restricted articulation and osteophyte-like features

growth/size/body

short snout ( J:187141 )

decreased body weight ( J:187141 )

craniofacial

short snout ( J:187141 )

limbs/digits/tail

abnormal elbow joint morphology ( J:187141 )

• abnormal joint between the humerus, ulna and radius with restricted articulation and osteophyte-like features

abnormal limb long bone morphology ( J:187141 )

short humerus ( J:187141 )

• disproportionately

abnormal ulna morphology ( J:187141 )

• osteophyte-like features on the ulna

short ulna ( J:187141 )

short femur ( J:187141 )

short tibia ( J:187141 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spondyloepiphyseal dysplasia congenita		DOID:14789	OMIM:183900	J:187141