- increased bone mineral density / IMPC
- decreased grip strength / IMPC
- enlarged spleen / IMPC
- decreased mean platelet volume / IMPC
- abnormal tibia morphology / IMPC
- increased bone mineral content / IMPC
- dilated heart left ventricle / IMPC
- increased large unstained cell number / IMPC
- abnormal optic disk morphology / IMPC
- increased neutrophil cell number / IMPC
- increased circulating alkaline phosphatase level / IMPC
- abnormal femur morphology / IMPC
- enlarged heart / IMPC
- decreased blood urea nitrogen level / IMPC
- increased leukocyte cell number / IMPC
- decreased circulating amylase level / IMPC
- increased heart weight / IMPC
- decreased lymphocyte cell number / IMPC
- decreased total body fat amount / IMPC
C57BL/6NTac-Col1a2em1H/H
| Status | Only small colony available |
| EMMA ID | EM:16420 |
| Citation information | RRID:IMSR_EM:16420 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | C57BL/6NTac-Col1a2em1H/H |
| Alternative name | |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Col1a2em1H |
| Gene/Transgene symbol | Col1a2 |
Information from provider
| Provider | Mary Lyon Centre at MRC Harwell |
| Provider affiliation | Mary Lyon Centre at MRC Harwell |
| Genetic information | This mouse line originates from CRISPR zygote microinjection. For further details see the project page at the IMPC portal. |
| Phenotypic information | Potential phenotyping data in the IMPC portal |
| References | None available |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Ehlers-Danlos/osteogenesis imperfecta syndrome / Orphanet_230857
- Osteogenesis imperfecta type 3 / Orphanet_216812
- Arthrochalasia Ehlers-Danlos syndrome / Orphanet_1899
- Osteogenesis imperfecta type 2 / Orphanet_216804
- Cardiac-valvular Ehlers-Danlos syndrome / Orphanet_230851
- Osteogenesis imperfecta type 4 / Orphanet_216820
- High bone mass osteogenesis imperfecta / Orphanet_314029
- Osteogenesis imperfecta type 1 / Orphanet_216796
IMPC phenotypes (gene matching)
MGI phenotypes (gene matching)
- fragile skeleton / MGI
- increased bone mineral density / MGI
- decreased bone mineral density / MGI
- decreased compact bone thickness / MGI
- kyphosis / MGI
- scoliosis / MGI
- abnormal forelimb morphology / MGI
- abnormal dermal layer morphology / MGI
- decreased body weight / MGI
- decreased body size / MGI
- abnormal gait / MGI
- hemorrhage / MGI
- abnormal skin morphology / MGI
- no abnormal phenotype detected / MGI
- abnormal caudal vertebrae morphology / MGI
- abnormal bone mineralization / MGI
- abnormal joint morphology / MGI
- decreased tendon stiffness / MGI
- abnormal long bone morphology / MGI
- abnormal compact bone morphology / MGI
- decreased bone strength / MGI
- cellular phenotype / MGI
- abnormal tendon morphology / MGI
- decreased bone mineral content / MGI
- decreased bone trabecula number / MGI
- decreased bone volume / MGI
- decreased compact bone area / MGI
- abnormal compact bone lamellar structure / MGI
- perinatal lethality, complete penetrance / MGI
- preweaning lethality, complete penetrance / MGI
- camptomelia / MGI
- increased volumetric bone mineral density / MGI
- increased osteocyte number / MGI
- abnormal knee joint morphology / MGI
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