IMPC phenotypes (gene matching)
C57BL/6J-Acanem1H/H
| Status | Available to order |
| EMMA ID | EM:15113 |
| Citation information | RRID:IMSR_EM:15113 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/6J-Acanem1H/H |
| Alternative name | ACAN-NVTEGA-EM1-B6J |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Acanem1H |
| Gene/Transgene symbol | Acan |
Information from provider
| Provider | MRC-Harwell |
| Provider affiliation | Mary Lyon Centre at MRC Harwell |
| Genetic information | For detailed information on the genetic description of this strain, please have a look at this report. |
| Breeding history | Co-isogenic on original background |
| References | None available |
| Homozygous fertile | not known |
| Homozygous viable | not known |
| Homozygous matings required | not known |
| Immunocompromised | not known |
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
- 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