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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 (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Abnormal intervertebral disc development in Col2a1tm1Prc/Col2a1tm1Prc mice

mortality/aging
• all dead at birth (J:30041)
• all dead at birth (J:30041)

cardiovascular system
• short (J:30041)
• short (J:30041)
• kidney hyperemia (J:30041)
• kidney hyperemia (J:30041)

craniofacial
• truncated facial bones (J:30041)
• truncated facial bones (J:30041)
• all mice lacked a palate with no evidence of palatal shelves (J:30041)
• all mice lacked a palate with no evidence of palatal shelves (J:30041)
• bulged foreheads (J:30041)
• bulged foreheads (J:30041)

embryogenesis
• not removed during embryonic development, persisted until birth (J:51376)
• not removed during embryonic development, persisted until birth (J:51376)

growth/size/body
• all mice lacked a palate with no evidence of palatal shelves (J:30041)
• all mice lacked a palate with no evidence of palatal shelves (J:30041)
• bulged foreheads (J:30041)
• bulged foreheads (J:30041)
• 25% smaller than wild-type littermates (J:30041)
• 25% smaller than wild-type littermates (J:30041)

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

limbs/digits/tail
• small hands and feet, with short bones (J:30041)
• small hands and feet, with short bones (J:30041)
• compared to wild-type littermates (J:30041)
• compared to wild-type littermates (J:30041)

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

renal/urinary system
• kidney hyperemia (J:30041)
• kidney hyperemia (J:30041)

respiratory system
• closed (J:30041)
• closed (J:30041)

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

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

digestive/alimentary system
• all mice lacked a palate with no evidence of palatal shelves (J:30041)
• all mice lacked a palate with no evidence of palatal shelves (J:30041)

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
01/26/2016
MGI 6.02
The Jackson Laboratory