IMPC phenotypes (gene matching)
C57BL/6NTac-Acantm1.1(EGFP/cre/ERT2)Wtsi/Cnrm
| Status | Available to order |
| EMMA ID | EM:08959 |
| International strain name | C57BL/6NTac-Acantm1.1(EGFP/cre/ERT2)Wtsi/Cnrm |
| Alternative name | CEPD0018_4_B02 |
| Strain type | Targeted Mutant Strains |
| Allele/Transgene symbol | Acantm1.1(EGFP/cre/ERT2)Wtsi |
| Gene/Transgene symbol | Acan |
Information from provider
| Provider | CNR, Consiglio Nazionale delle Ricerche |
| Provider affiliation | EMMA-Monterotondo Campus International Development, CNR, Consiglio Nazionale delle Ricerche |
| Genetic information | This mouse line originates from EUCOMM ES clone CEPD0018_4_B02. For further details on the construction of this clone see the page at the IMPC portal. Quality Control/Disclaimer: The structure of the targeted mutation is not fully verified. It is recommended that the recipient confirms the mutation structure by Southern blotting. The Cre expression pattern is expected to mirror that of the host gene, but this may not be fully described and/or may be modified in the targeted allele. Although characterisation of the Cre expression pattern is an objective of EUCOMMTools this is an ongoing process which may be incomplete. It is therefore recommended that the recipient verifies the Cre expression pattern. For the tm1.1(EGFP/Cre/ERT2) type allele, if the promoter-driven selection cassette is flanked with Rox sites, it may be removed using Dre recombinase. Please be aware that the strain description may be subject to change. For the most recent description please consult the information pages for the appropriate product details at the IMPC portal. |
| Phenotypic information | Potential phenotyping data in the IMPC portal |
| References | None available |
Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Short stature-advanced bone age-early-onset osteoarthritis syndrome / Orphanet_435804
- Familial osteochondritis dissecans / Orphanet_251262
- Spondyloepiphyseal dysplasia, Kimberley type / Orphanet_93283
- Spondyloepimetaphyseal dysplasia, aggrecan type / Orphanet_171866
MGI phenotypes (gene matching)
- abnormal organ of Corti morphology / MGI
- cleft palate / MGI
- abnormal trabecular bone morphology / MGI
- abnormal vertebrae morphology / MGI
- abnormal vertebral body morphology / MGI
- abnormal rib morphology / MGI
- kyphosis / MGI
- lordosis / MGI
- abnormal cartilage development / MGI
- abnormal chondrocyte morphology / MGI
- short snout / MGI
- flattened snout / MGI
- short limbs / MGI
- abnormal liver morphology / MGI
- enlarged liver / MGI
- abnormal spinal cord morphology / MGI
- abnormal lung morphology / MGI
- pulmonary hypoplasia / MGI
- obese / MGI
- distended abdomen / MGI
- abnormal gait / MGI
- aphagia / MGI
- cardiac hypertrophy / MGI
- respiratory failure / MGI
- respiratory distress / MGI
- deafness / MGI
- premature death / MGI
- abnormal limb morphology / MGI
- abnormal craniofacial bone morphology / MGI
- no abnormal phenotype detected / MGI
- disproportionate dwarf / MGI
- brachydactyly / MGI
- brachypodia / MGI
- abnormal joint morphology / MGI
- short femur / MGI
- abnormal tracheal cartilage morphology / MGI
- decreased susceptibility to induced arthritis / MGI
- polyhydramnios / MGI
- abnormal intervertebral disk morphology / MGI
- short humerus / MGI
- abnormal cochlear inner hair cell morphology / MGI
- absent cochlear outer hair cells / MGI
- absent caudal vertebrae / MGI
- intervertebral disk degeneration / MGI
- decreased length of long bones / MGI
- short vertebral column / MGI
- small thoracic cavity / MGI
- abnormal cochlear IHC afferent innervation pattern / MGI
- cardiomyopathy / MGI
- abnormal limb development / MGI
- protruding tongue / MGI
- neonatal lethality, complete penetrance / MGI
- increased or absent threshold for auditory brainstem response / MGI
- short basicranium / MGI