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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Col2a1
collagen, type II, alpha 1
MGI:88452
163 phenotypes from 15 alleles in 17 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Col2a1Dmm/Col2a1+
involves: 101 * C3H 		abnormal long bone epiphysis morphology J:6582
abnormal postnatal growth/weight/body size J:6582
disproportionate dwarf J:6582
postnatal lethality, incomplete penetrance J:6582
short limbs J:6582
shortened head J:6582
Col2a1Dmm/Col2a1Dmm
involves: 101 * C3H 		abnormal chondrocyte morphology J:6582, J:37522
abnormal long bone epiphysis morphology J:6582
abnormal lung volume J:17182
abnormal neurocranium morphology J:6582
abnormal pulmonary alveolus morphology J:17182
cleft palate J:6582
decreased length of long bones J:6582
disproportionate dwarf J:6582
perinatal lethality, complete penetrance J:17182
prenatal lethality, incomplete penetrance J:6582
pulmonary hypoplasia J:17182
respiratory distress J:17182
short limbs J:6582, J:37522
short mandible J:6582
short ribs J:17182
short vertebral column J:37522
small thoracic cage J:37522
Col2a1Lpk/Col2a1+
C.B6(C3)-Col2a1Lpk 		abnormal skeleton morphology J:187141
Col2a1Lpk/Col2a1+
either: C3H.Cg-Col2a1Lpk/H or (involves: C3H/HeH * C57BL/6J) 		short limbs J:148829
Col2a1Lpk/Col2a1+
involves: C3H/HeH * C57BL/6J 		abnormal bone ossification J:187141
abnormal bone structure J:187141
abnormal cartilage development J:187141
abnormal cartilage morphology J:187141
abnormal chondrocyte morphology J:187141
abnormal elbow joint morphology J:187141
abnormal epiphyseal plate morphology J:187141
abnormal joint mobility J:187141
abnormal limb long bone morphology J:187141
abnormal long bone epiphyseal ossification zone morphology J:187141
abnormal long bone epiphysis morphology J:187141
abnormal long bone metaphysis morphology J:187141
abnormal skeleton development J:187141
abnormal skeleton physiology J:187141
abnormal trabecular bone morphology J:187141
abnormal ulna morphology J:187141
decreased body weight J:187141
decreased bone mineral density J:187141
decreased bone trabecula number J:187141
decreased bone volume J:187141
decreased trabecular bone volume J:187141
decreased width of hypertrophic chondrocyte zone J:187141
delayed endochondral bone ossification J:187141
disorganized long bone epiphyseal plate J:187141
increased compact bone thickness J:187141
short femur J:187141
short humerus J:187141
short lumbar vertebrae J:187141
short snout J:187141
short tibia J:187141
short ulna J:187141
Col2a1Lpk/Col2a1Lpk
involves: C3H/HeH * C57BL/6J 		abnormal cartilage development J:187141
abnormal cartilage morphology J:187141
abnormal chondrocyte morphology J:187141
abnormal long bone epiphyseal plate proliferative zone J:187141
cleft palate J:187141
decreased fetal size J:187141
decreased length of long bones J:187141
disorganized long bone epiphyseal plate J:187141
increased diameter of long bones J:187141
perinatal lethality, complete penetrance J:187141
Col2a1m1Btlr/Col2a1+
C57BL/6J-Col2a1m1Btlr/Btlr 		short femur J:309727
short tibia J:309727
Col2a1m1Btlr/Col2a1m1Btlr
C57BL/6J-Col2a1m1Btlr/Btlr 		short femur J:309727
short tibia J:309727
Col2a1M2J/Col2a1+
B6;C3Fe-Col2a1M2J/GrsrJ 		cleft palate J:176116, J:187363
decreased percent body fat/body weight J:187363
increased body weight J:187363
increased cranium length J:187363
increased percent body fat/body weight J:187363
short snout J:187363
Col2a1M3J/Col2a1+
B6(Cg)-Col2a1M3J/GrsrJ 		short snout J:206718
Col2a1mc13/Col2a1mc13
involves: C57BL/6J * FVB/NJ 		abnormal head shape J:225386
abnormal limb long bone morphology J:225386
abnormal limb morphology J:225386
decreased length of long bones J:225386
increased diameter of femur J:225386
increased diameter of fibula J:225386
increased diameter of humerus J:225386
increased diameter of long bones J:225386
increased diameter of radius J:225386
increased diameter of tibia J:225386
increased diameter of ulna J:225386
microcephaly J:225386
short femur J:225386
short fibula J:225386
short humerus J:225386
short limbs J:225386
short mandible J:225386
short radius J:225386
short tibia J:225386
short ulna J:225386
Col2a1Rgsc413/Col2a1+
involves: C57BL/6JJcl * DBA/2JJcl 		abnormal long bone epiphyseal plate proliferative zone J:260538
disorganized long bone epiphyseal plate J:260538
short forelimb J:133634
Col2a1Rgsc413/Col2a1Rgsc413
involves: C57BL/6JJcl * DBA/2JJcl 		abnormal long bone epiphyseal plate proliferative zone J:260538
abnormal pelvic girdle bone morphology J:260538
decreased body size J:260538
disorganized long bone epiphyseal plate J:260538
increased chondrocyte apoptosis J:260538
perinatal lethality, complete penetrance J:260538
platyspondylia J:260538
short limbs J:260538
short snout J:260538
Col2a1Rgsc856/Col2a1+
involves: C57BL/6JJcl * DBA/2JJcl 		abnormal chondrocyte morphology J:171906
abnormal chondrocyte physiology J:171906
abnormal epiphyseal plate morphology J:171906
abnormal forelimb morphology J:133634
abnormal hindlimb morphology J:133634
abnormal long bone epiphyseal plate proliferative zone J:171906
decreased fetal size J:171906
micromelia J:171906
short femur J:171906
short humerus J:133634
short limbs J:133634
short radius J:133634
short ulna J:133634
normal skeleton phenotype J:171906
vertebral body hypoplasia J:171906
Col2a1Rgsc856/Col2a1Rgsc856
involves: C57BL/6JJcl * DBA/2JJcl 		abnormal chondrocyte morphology J:171906
abnormal chondrocyte physiology J:171906
abnormal epiphyseal plate morphology J:171906
abnormal long bone epiphyseal plate proliferative zone J:171906
abnormal pelvic girdle bone morphology J:171906
abnormal skeleton morphology J:171906
abnormal vertebrae morphology J:171906
brachydactyly J:171906
decreased fetal size J:171906
perinatal lethality, complete penetrance J:171906
platyspondylia J:171906
short limbs J:171906
short snout J:171906
Col2a1sedc/Col2a1sedc
involves: C57BL/6J 		abnormal digestive system physiology J:85735
decreased body length J:85735
decreased body weight J:85735
disorganized retina layers J:85735
head bobbing J:85735
impaired hearing J:85735
seizures J:85735
spinning J:85735
Col2a1tm1.1Ksec/Col2a1+
involves: 129S7/SvEvBrd * 129X1/SvJ * C57BL/6 		cyclopia J:163739
enophthalmos J:163739
microcephaly J:163739
midface hypoplasia J:163739
Col2a1tm1.1Ksec/Col2a1+
involves: 129X1/SvJ * C57BL/6 		abnormal forebrain development J:163739
abnormal head morphology J:163739
abnormal mesendoderm development J:163739
midface hypoplasia J:163739
Col2a1tm1.1Ksec/Col2a1tm1.1Ksec
involves: 129S7/SvEvBrd * 129X1/SvJ * C57BL/6 		abnormal neural tube morphology J:163739
abnormal tail morphology J:163739
cyclopia J:163739
microcephaly J:163739
midface hypoplasia J:163739
prenatal lethality, incomplete penetrance J:163739
Col2a1tm1.1Ksec/Col2a1tm1.1Ksec
involves: 129X1/SvJ * C57BL/6 		abnormal brain development J:163739
abnormal cranial ganglia morphology J:163739
abnormal diencephalon morphology J:163739
abnormal eye development J:163739
abnormal forebrain morphology J:163739
abnormal head morphology J:163739
abnormal mesendoderm development J:163739
abnormal optic vesicle formation J:163739
abnormal snout morphology J:163739
absent nasal cavity J:163739
absent nasal septum J:163739
cyclopia J:163739
enophthalmos J:163739
holoprosencephaly J:163739
maxilla hypoplasia J:163739
microcephaly J:163739
nasal bone hypoplasia J:163739
premaxilla hypoplasia J:163739
proboscis J:163739
retrognathia J:163739
short mandible J:163739
short snout J:163739
Col2a1tm1.1Mcali/Col2a1tm1.1Mcali
involves: 129S6/SvEvTac * C57BL/6J * FVB/N 		no abnormal phenotype detected J:184499
Col2a1tm1Dshh/Col2a1+
involves: 129S6/SvEvTac * C57BL/6J 		no abnormal phenotype detected J:212712
Col2a1tm1Dshh/Col2a1tm1Dshh
involves: 129S6/SvEvTac * C57BL/6J 		abnormal cartilage development J:212712
abnormal chest morphology J:212712
abnormal chondrocyte morphology J:212712
abnormal chondrocyte physiology J:212712
abnormal cranium morphology J:212712
abnormal endochondral bone ossification J:212712
abnormal long bone epiphyseal plate proliferative zone J:212712
abnormal pelvic girdle bone morphology J:212712
abnormal phalanx morphology J:212712
abnormal scapula morphology J:212712
abnormal skeleton development J:212712
abnormal thoracic cage morphology J:212712
abnormal trabecular bone morphology J:212712
abnormal vertebrae development J:212712
chondrodystrophy J:212712
cleft palate J:212712
cyanosis J:212712
decreased body length J:212712
decreased body size J:212712
decreased fetal size J:212712
decreased length of long bones J:212712
decreased width of hypertrophic chondrocyte zone J:212712
delayed endochondral bone ossification J:212712
disorganized long bone epiphyseal plate J:212712
distended abdomen J:212712
increased diameter of long bones J:212712
neonatal lethality, complete penetrance J:212712
respiratory distress J:212712
short facial bone J:212712
short femur J:212712
short humerus J:212712
short limbs J:212712
short snout J:212712
Col2a1tm1Prc/Col2a1+
involves: 129/Sv * C57BL/6 		abnormal anterior eye segment morphology J:144313
abnormal cartilage development J:30041
abnormal chondrocyte morphology J:30041
abnormal ciliary process morphology J:144313
abnormal lens morphology J:144313
abnormal posterior eye segment morphology J:144313
abnormal skeleton development J:30041
cleft palate J:30041
decreased body size J:30041
decreased fetal size J:30041
decreased hyaluronic acid level J:144313
neonatal lethality, incomplete penetrance J:30041
prominent forehead J:30041
short limbs J:30041
short snout J:30041
normal vision/eye phenotype J:144313
Col2a1tm1Prc/Col2a1tm1Prc
involves: 129 		abnormal articular cartilage morphology J:117910
abnormal cartilage development J:84739
abnormal cartilage morphology J:117910
abnormal chest morphology J:84739, J:117910
abnormal endochondral bone ossification J:84739, J:117910
abnormal long bone epiphyseal plate morphology J:117910
abnormal long bone epiphysis morphology J:117910
abnormal long bone hypertrophic chondrocyte zone J:84739, J:117910
abnormal long bone metaphysis morphology J:84739, J:117910
abnormal long bone morphology J:117910
abnormal rib morphology J:84739, J:117910
abnormal skeleton development J:84739
abnormal trabecular bone morphology J:117910
abnormal vertebral body morphology J:117910
absent intervertebral disk J:84739, J:117910
chondrodystrophy J:84739
decreased body length J:117910
decreased embryo size J:84739
decreased length of long bones J:84739, J:117910
disorganized long bone epiphyseal plate J:84739
disproportionate dwarf J:84739, J:117910
domed cranium J:117910
enlarged vertebral body J:84739, J:117910
increased long bone epiphyseal plate size J:84739
persistence of notochord tissue J:84739
short facial bone J:117910
short mandible J:117910
short nasal bone J:117910
Col2a1tm1Prc/Col2a1tm1Prc
involves: 129/Sv * C57BL/6 		abnormal bone marrow cavity morphology J:30041
abnormal cartilage development J:30041, J:51376
abnormal chondrocyte morphology J:30041, J:51376
abnormal heart valve morphology J:30041
abnormal limb bone morphology J:30041
abnormal long bone epiphysis morphology J:30041
abnormal pulmonary alveolus morphology J:30041
abnormal vertebral arch morphology J:30041
absent intervertebral disk J:51376
absent palatal shelf J:30041
cleft palate J:30041
decreased autopod size J:30041
decreased body size J:30041
decreased bone mineral density J:30041
decreased length of long bones J:30041
normal immune system phenotype J:30041
increased renal plasma flow rate J:30041
kidney hemorrhage J:30041
normal liver/biliary system phenotype J:30041
perinatal lethality, complete penetrance J:30041
persistence of notochord tissue J:51376
prominent forehead J:30041
respiratory distress J:30041
short facial bone J:30041
short limbs J:30041
short ribs J:30041
short snout J:30041
small cranium J:30041
normal vision/eye phenotype J:30041
Tg(Col2a1*G574S)1Waho/0
involves: C57BL/6 * DBA/2 		abnormal chondrocyte differentiation J:38204
abnormal cranium morphology J:38204
abnormal endochondral bone ossification J:38204
abnormal epiphyseal plate morphology J:38204
abnormal long bone epiphyseal plate morphology J:38204
abnormal long bone epiphyseal plate proliferative zone J:38204
abnormal long bone hypertrophic chondrocyte zone J:38204
abnormal thoracic cage morphology J:38204
cleft palate J:38204
decreased body size J:38204
decreased length of long bones J:38204
delayed endochondral bone ossification J:38204
distended abdomen J:38204
perinatal lethality, incomplete penetrance J:38204
short limbs J:38204
short snout J:38204
short tail J:38204
short vertebral column J:38204
Tg(Col2a1*R789C)#Waho/0
involves: C57BL/6 * DBA/2 		abnormal cartilage morphology J:112540
abnormal chest morphology J:112540
abnormal epiphyseal plate morphology J:112540
abnormal limb bone morphology J:112540
abnormal long bone epiphyseal plate proliferative zone J:112540
abnormal perichondrium morphology J:112540
cleft palate J:112540
decreased body length J:112540
decreased litter size J:112540
delayed bone ossification J:112540
disproportionate dwarf J:112540
distended abdomen J:112540
neonatal lethality, complete penetrance J:112540
protruding tongue J:112540
respiratory distress J:112540
short limbs J:112540
short ribs J:112540
short snout J:112540
short vertebral column J:112540
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12/10/2024
MGI 6.24 		The Jackson Laboratory