C57BL/6N-Acantm1a(EUCOMM)Hmgu/H
Status | Available to order |
EMMA ID | EM:10224 |
International strain name | C57BL/6N-Acantm1a(EUCOMM)Hmgu/H |
Alternative name | HEPD0602_5_G11 |
Strain type | Targeted Mutant Strains |
Allele/Transgene symbol | Acantm1a(EUCOMM)Hmgu |
Gene/Transgene symbol | Acan |
Disclaimer | Please note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA:
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Information from provider
Provider | MRC, Medical Research Council |
Provider affiliation | Mary Lyon Centre at MRC Harwell |
Genetic information | This mouse line originates from EUCOMM ES clone HEPD0602_5_G11. For further details on the construction of this clone see the page at the IMPC portal. |
Phenotypic information | Potential phenotyping data in the IMPC portal |
References |
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Information from EMMA
Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Animals used for archiving | heterozygous C57BL/6NTac |
Breeding at archiving centre | The mutation is coisogenic on a C57BL/6NTac background |
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
IMPC phenotypes (gene matching)
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
Literature references
- Aggrecan Directs Extracellular Matrix-Mediated Neuronal Plasticity.;Rowlands Daire, Lensjø Kristian K, Dinh Tovy, Yang Sujeong, Andrews Melissa R, Hafting Torkel, Fyhn Marianne, Fawcett James W, Dick Gunnar, ;2018;The Journal of neuroscience : the official journal of the Society for Neuroscience;38;10102-10113; 30282728
- Astrocytes require perineuronal nets to maintain synaptic homeostasis in mice.;Tewari Bhanu P, Woo AnnaLin M, Prim Courtney E, Chaunsali Lata, Patel Dipan C, Kimbrough Ian F, Engel Kaliroi, Browning Jack L, Campbell Susan L, Sontheimer Harald, ;2024;Nature neuroscience;27;1475-1488; 39020018
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