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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Col2a1tm1Prc
targeted mutation 1, Darwin J Prockop
MGI:2152978
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Col2a1tm1Prc/Col2a1tm1Prc involves: 129/Sv MGI:3590207
hm2
Col2a1tm1Prc/Col2a1tm1Prc involves: 129/Sv * C57BL/6 MGI:2677039
ht3
Col2a1tm1Prc/Col2a1+ involves: 129/Sv * C57BL/6 MGI:2677040
cx4
Col2a1tm1Prc/Col2a1+
Col9a1tm1Jae/Col9a1tm1Jae
involves: 129/Sv * 129S2/SvPas MGI:3699109


Genotype
MGI:3590207
hm1
Allelic
Composition
Col2a1tm1Prc/Col2a1tm1Prc
Genetic
Background
involves: 129/Sv
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
growth/size/body
• shorter trunk (J:84739)
• shorter trunk (J:84739)
• thorax is narrowed (J:84739)
• thorax is narrowed (J:84739)

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

embryogenesis
• shorter trunk (J:84739)
• shorter trunk (J:84739)
• the rod-like notochord remains unchanged in late development (J:84739)
• the rod-like notochord remains unchanged in late development (J:84739)

craniofacial
• facial bones are shortened (J:117910)
• facial bones are shortened (J:117910)
• chondrocranium is shortened leading to a dome shaped skull (J:117910)
• however, membranous bones in the head develop normally (J:117910)
• chondrocranium is shortened leading to a dome shaped skull (J:117910)
• however, membranous bones in the head develop normally (J:117910)

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




Genotype
MGI:2677039
hm2
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




Genotype
MGI:2677040
ht3
Allelic
Composition
Col2a1tm1Prc/Col2a1+
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
mortality/aging
• those with cleft palate, 5 of 120, were dead at birth or shortly thereafter (J:30041)
• those with cleft palate, 5 of 120, were dead at birth or shortly thereafter (J:30041)

craniofacial
• incomplete penetrance, 5 of 120 (J:30041)
• incomplete penetrance, 5 of 120 (J:30041)
• compared to wild-type littermates (J:30041)
• compared to wild-type littermates (J:30041)
• slightly bulged foreheads (J:30041)
• slightly bulged foreheads (J:30041)

growth/size/body
• incomplete penetrance, 5 of 120 (J:30041)
• incomplete penetrance, 5 of 120 (J:30041)
• compared to wild-type littermates (J:30041)
• compared to wild-type littermates (J:30041)
• slightly bulged foreheads (J:30041)
• slightly bulged foreheads (J:30041)
• smaller than wild-type littermates at 19 days after birth (J:30041)
• smaller than wild-type littermates at 19 days after birth (J:30041)
• smaller than wildtype at 15 days pc (J:30041)
• smaller than wildtype at 15 days pc (J:30041)

limbs/digits/tail
• compared to wild-type littermates (J:30041)
• compared to wild-type littermates (J:30041)

skeleton
• disorganized columnar array (J:30041)
• disorganized columnar array (J:30041)
• minor changes in gross development of skeleton and soft tissues, however normal extent of mineralization (J:30041)
• minor changes in gross development of skeleton and soft tissues, however normal extent of mineralization (J:30041)

vision/eye
N
• despite eye abnormalities, no increase in retinal detachment is observed (J:144313)
• 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 (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 (J:144313)
• the subcapsular extracellular matrix is abnormal (J:144313)
• the subcapsular extracellular matrix is abnormal (J:144313)
• hyaluronic acid staining in the choroid is decreased in intensity compared to in wild-type mice (J:144313)
• hyaluronic acid staining in the choroid is decreased in intensity compared to in wild-type mice (J:144313)

digestive/alimentary system
• incomplete penetrance, 5 of 120 (J:30041)
• incomplete penetrance, 5 of 120 (J:30041)

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




Genotype
MGI:3699109
cx4
Allelic
Composition
Col2a1tm1Prc/Col2a1+
Col9a1tm1Jae/Col9a1tm1Jae
Genetic
Background
involves: 129/Sv * 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col2a1tm1Prc mutation (0 available); any Col2a1 mutation (20 available)
Col9a1tm1Jae mutation (1 available); any Col9a1 mutation (3 available)
phenotype observed in females
phenotype observed in males
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 (J:117910)
• 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 (J:117910)

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 (J:117910)
• 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 (J:117910)





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory