IMPC phenotypes (gene matching)
C3H101H-Dync1h1Swl/H
| Status | Available to order |
| EMMA ID | EM:00173 |
| Citation information | RRID:IMSR_EM:00173 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 | C3H101H-Dync1h1Swl/H |
| Alternative name | Sprawling |
| Strain type | Induced Mutant Strains : Radiation-induced |
| Allele/Transgene symbol | Dync1h1Swl |
| Gene/Transgene symbol | Dync1h1 |
Information from provider
| Provider | Martin FRAY |
| Provider affiliation | Mary Lyon Centre at MRC Harwell |
| Phenotypic information | Mice carrying this mutation have an abnormal posture and sprawling locomotion caused by a defective position sense mainly affecting hindlimbs, coupled with a myelination deficiency and a deficiency of sensory receptors. |
| References |
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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
- Autosomal dominant non-syndromic intellectual disability / Orphanet_178469
- DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy / Orphanet_209341
- Autosomal dominant Charcot-Marie-Tooth disease type 2O / Orphanet_284232
MGI phenotypes (gene matching)
- muscle spasm / MGI
- paralysis / MGI
- motor neuron degeneration / MGI
- decreased motor neuron number / MGI
- abnormal motor neuron innervation pattern / MGI
- abnormal neuromuscular synapse morphology / MGI
- impaired coordination / MGI
- absent suckling reflex / MGI
- aphagia / MGI
- limb grasping / MGI
- abnormal grip strength / MGI
- impaired limb coordination / MGI
- abnormal postnatal growth / MGI
- male infertility / MGI
- neuronal intranuclear inclusions / MGI
- abnormal axonal transport / MGI
- decreased spinal cord ventral horn cell number / MGI
- muscle phenotype / MGI
- jerky movement / MGI
- increased susceptibility to weight gain / MGI
- abnormal resting posture / MGI
- decreased grip strength / MGI
- neonatal lethality, complete penetrance / MGI
- embryonic lethality between implantation and somite formation, complete penetrance / MGI
- embryonic lethality between somite formation and embryo turning, complete penetrance / MGI
Literature references
- A dominant hereditary sensory disorder in the mouse with deficiency of muscle spindles: the mutant Sprawling.;Duchen L W, ;1974;The Journal of physiology;237;10P-11P; 4274920