Mouse Genome Informatics
hm1
    Col2a1tm1Prc/Col2a1tm1Prc
involves: 129/Sv
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
growth/size
• shorter trunk
• thorax is narrowed (J:84739)

skeleton
• facial bones are shortened
• chondrocranium is shortened leading to a dome shaped skull
• however, membranous bones in the head develop normally
• greatly shortened (J:84739)
• shorter long bones (J:84739)
• size and shape of ribs are abnormal (J:84739)
• vertebral body cartilage is structurally disorganized and lacks ossification centers
• vertebral bodies are increased in size and have an abnormal shape (J:84739)
• trabecular bones are oriented transversely instead of perpendicular to the direction of longitudinal growth
• weak cartilage
• lacunar organization within cartilage is missing
• proteoglycan content is decreased throughout cartilage
• the forming articular surface of cartilage is irregular and covered with several fibrous-like cell layers
• cartilage lacks growth plates although cells resembling hypertrophic chondrocytes are seen adjacent to the ossification zone
• matrix in the hypertrophic-like zone is poorly mineralized (J:117910)
• growth plates are disorganized
• epiphyseal cartilages of femur and tibia are enlarged and frequently contain holes
• epiphyseal cartilages of femur and tibia are enlarged and frequently contain holes
• completely lack a well-organized collagen fibrillar network in all zones of cartilage
• all bones formed by endochondral bone ossification are malformed (J:84739)

embryogenesis
• shorter trunk
• the rod-like notochord remains unchanged in late development

craniofacial
• facial bones are shortened
• chondrocranium is shortened leading to a dome shaped skull
• however, membranous bones in the head develop normally

Mouse Models of Human Disease
OMIM IDRef(s)
Achondrogenesis, Type II; ACG2 200610 J:117910


Mouse Genome Informatics
hm2
    Col2a1tm1Prc/Col2a1tm1Prc
involves: 129/Sv * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype

Abnormal intervertebral disc development in Col2a1tm1Prc/Col2a1tm1Prc mice

mortality/aging
• all dead at birth

cardiovascular system
• kidney hyperemia

craniofacial
• truncated facial bones
• all mice lacked a palate with no evidence of palatal shelves
• bulged foreheads

embryogenesis
• not removed during embryonic development, persisted until birth

growth/size
• all mice lacked a palate with no evidence of palatal shelves
• bulged foreheads
• 25% smaller than wild-type littermates

immune system
N
• normal thymus histology (J:30041)

limbs/digits/tail
• small hands and feet, with short bones
• compared to wild-type littermates

liver/biliary system
N
• normal liver histology (J:30041)

renal/urinary system
• kidney hyperemia

respiratory system

skeleton
• truncated facial bones
• shortened long bones
• shortened ribs
• failed to develop
• rudimentary and unclosed
• cavities evident in long bones, but no marrow present
• poor mineralization of the sternum, dorsal laminae, some, but not all, vertebrae in tail and the middle and distal phalanges
• evident at E14.5, failure of cartilage to enter growth plates and endochondral bone (J:51376)
• almost completely disorganized columnar array (J:30041)
• disorganized in vertebrae at E14.5 (J:51376)

vision/eye
N
• normal eye histology (J:30041)

digestive/alimentary system
• all mice lacked a palate with no evidence of palatal shelves

Mouse Models of Human Disease
OMIM IDRef(s)
Spondyloepiphyseal Dysplasia Congenita; SEDC 183900 J:30041


Mouse Genome Informatics
ht3
    Col2a1tm1Prc/Col2a1+
involves: 129/Sv * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• those with cleft palate, 5 of 120, were dead at birth or shortly thereafter

craniofacial
• incomplete penetrance, 5 of 120
• compared to wild-type littermates
• slightly bulged foreheads

growth/size
• incomplete penetrance, 5 of 120
• compared to wild-type littermates
• slightly bulged foreheads
• smaller than wild-type littermates at 19 days after birth
• smaller than wildtype at 15 days pc

limbs/digits/tail
• compared to wild-type littermates

skeleton
• disorganized columnar array
• minor changes in gross development of skeleton and soft tissues, however normal extent of mineralization

vision/eye
N
• despite eye abnormalities, no increase in retinal detachment is observed (J:144313)
• the anterior eye segment exhibits decreased folding in the ciliary process with changes in the stromal extracellular matrix and vacuolization compared to in wild-type eyes
• the subcapsular extracellular matrix is abnormal
• hyaluronic acid staining in the choroid is decreased in intensity compared to in wild-type mice

digestive/alimentary system
• incomplete penetrance, 5 of 120

Mouse Models of Human Disease
OMIM IDRef(s)
Stickler Syndrome, Type I, Nonsyndromic Ocular 609508 J:144313


Mouse Genome Informatics
cx4
    Col2a1tm1Prc/Col2a1+
Col9a1tm1Jae/Col9a1tm1Jae

involves: 129/Sv * 129S2/SvPas
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
• develop osteoarthritis-like degenerative changes in knee joints to similar extent as in single Col9a1 homozygotes; show no difference in the onset of osteoarthritis between the double mutants and the single Col9a1 homozygotes

skeleton
• develop osteoarthritis-like degenerative changes in knee joints to similar extent as in single Col9a1 homozygotes; show no difference in the onset of osteoarthritis between the double mutants and the single Col9a1 homozygotes