IMPC phenotypes (gene matching)
C57BL/6J-Acanem1H/H
| Status | Available to order |
| EMMA ID | EM:15113 |
| 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