IMPC phenotypes (gene matching)
C3H/HeH.C57BL/6J-Acanmpc227H/H
| Status | Available to order |
| EMMA ID | EM:16036 |
| Citation information | RRID:IMSR_EM:16036 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 | C3H/HeH.C57BL/6J-Acanmpc227H/H |
| Alternative name | C3H/HeH.C57BL/6J-Acanmpc227H/H |
| Strain type | Induced Mutant Strains |
| Allele/Transgene symbol | Acanmpc227 |
| Gene/Transgene symbol | Acan |
Information from provider
| Provider | MRC, Medical Research Council |
| Provider affiliation | Mary Lyon Centre at MRC Harwell |
| Genetic information | This strain carries an ENU induced C to T point mutation that results in the amino acid substitution of valine for alanine at position 1946 (A1946V). |
| Phenotypic information | Slight dwarfism, short tail, limbs and snout. Defect in cartilage protein Aggrecan, joint problems with ageing. Obesity with ageing. |
| Breeding history | The original mutant, MUTA-G1-C3PDE/383.3e is an offspring of "sighted" C3H female (i.e. the congenic C3H stock carrying the BALB/c version of the Pde6b gene) mated to C57BL/6J male that received ENU. The rederived mice were recovered from sperm derived from a male maintained by backcrossing to "sighted" C3H.Pde6b+ for 10+ generations. |
| References |
|
| 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
Literature references
- Novel gene function revealed by mouse mutagenesis screens for models of age-related disease.;Potter Paul K, Bowl Michael R, Jeyarajan Prashanthini, Wisby Laura, Blease Andrew, Goldsworthy Michelle E, Simon Michelle M, Greenaway Simon, Michel Vincent, Barnard Alun, Aguilar Carlos, Agnew Thomas, Banks Gareth, Blake Andrew, Chessum Lauren, Dorning Joanne, Falcone Sara, Goosey Laurence, Harris Shelley, Haynes Andy, Heise Ines, Hillier Rosie, Hough Tertius, Hoslin Angela, Hutchison Marie, King Ruairidh, Kumar Saumya, Lad Heena V, Law Gemma, MacLaren Robert E, Morse Susan, Nicol Thomas, Parker Andrew, Pickford Karen, Sethi Siddharth, Starbuck Becky, Stelma Femke, Cheeseman Michael, Cross Sally H, Foster Russell G, Jackson Ian J, Peirson Stuart N, Thakker Rajesh V, Vincent Tonia, Scudamore Cheryl, Wells Sara, El-Amraoui Aziz, Petit Christine, Acevedo-Arozena Abraham, Nolan Patrick M, Cox Roger, Mallon Anne-Marie, Brown Steve D M, ;2016;Nature communications;7;12444; 27534441