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Phenotypes Associated with This Genotype
Genotype
MGI:2677039
Allelic
Composition
Col2a1tm1Prc/Col2a1tm1Prc
Genetic
Background
involves: 129/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col2a1tm1Prc mutation (0 available); any Col2a1 mutation (35 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Abnormal intervertebral disc development in Col2a1tm1Prc/Col2a1tm1Prc mice

mortality/aging

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/body
• 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

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

liver/biliary system
N
• normal liver histology

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

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

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


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
04/26/2016
MGI 6.03
The Jackson Laboratory