Mouse Genome Informatics
hm
    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