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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Col2a1
collagen, type II, alpha 1
MGI:88452
27 phenotypes from multigenic genotypes
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Allelic Composition
Genetic Background		 Annotated Term Reference
\Bmpr1atm1Bhr/\Bmpr1a+
\Col2a1tm1.1Ksec/\Col2a1+
involves: 129S7/SvEvBrd * 129X1/SvJ * C57BL/6 		abnormal neural tube morphology J:163739
abnormal tail morphology J:163739
enophthalmos J:163739
\Bmpr1atm1Bhr/\Bmpr1a+
\Col2a1tm1.1Ksec/\Col2a1tm1.1Ksec
involves: 129S7/SvEvBrd * 129X1/SvJ * C57BL/6 		cyclopia J:163739
microcephaly J:163739
midface hypoplasia J:163739
prenatal lethality, incomplete penetrance J:163739
\Col2a1tm1(SOX9)Crm/\Col2a1+
129S/Sv-Col2a1tm1(SOX9)Crm 		abnormal axial skeleton morphology J:90567
abnormal basicranium morphology J:90567
abnormal cartilage morphology J:90567
abnormal craniofacial bone morphology J:90567
abnormal hyoid bone morphology J:90567
abnormal long bone epiphyseal plate morphology J:90567
abnormal vertebrae morphology J:90567
cleft secondary palate J:90567
decreased body size J:90567
decreased chondrocyte proliferation J:90567
decreased length of long bones J:90567
domed cranium J:90567
neonatal lethality, incomplete penetrance J:90567
radius hypoplasia J:90567
respiratory distress J:90567
short snout J:90567
small thoracic cage J:90567
\Col2a1tm1(SOX9)Crm/\Col2a1+
\Sox9tm1Crm/\Sox9+
involves: 129S4/SvJae 		abnormal skeleton development J:90567
decreased body size J:90567
neonatal lethality, incomplete penetrance J:90567
\Col2a1tm1.1Ksec/\Col2a1+
\Nodaltm1Rob/\Nodal+
involves: 129S/SvEv * 129X1/SvJ * C57BL/6 		abnormal head morphology J:163739
\Col2a1tm1.1Ksec/\Col2a1tm1.1Ksec
\Nodaltm1Rob/\Nodal+
involves: 129S/SvEv * 129X1/SvJ * C57BL/6 		abnormal head morphology J:163739
\Col2a1tm1Prc/\Col2a1+
\Col9a1tm1Jae/\Col9a1tm1Jae
involves: 129/Sv * 129S2/SvPas 		osteoarthritis J:117910
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
03/25/2025
MGI 6.24 		The Jackson Laboratory