IMPC phenotypes (gene matching)
STOCK Dync1h1Loa/H
| Status | Available to order |
| EMMA ID | EM:01847 |
| International strain name | STOCK Dync1h1Loa/H |
| Alternative name | Legs at odd angles |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Dync1h1Loa |
| Gene/Transgene symbol | Dync1h1 |
Information from provider
| Provider | Jo Peters |
| Provider affiliation | Institute of Hearing Research, MRC (Medical Research Council) |
| Genetic information | A phenotypic mutant that arose in a mutagenesis experiment at Harwell. Legs at odd angles (Loa) was found to be allelic to Dync1h1Cra1 through complementation testing. The mutation in the Loa mouse was identified as T to A transversion that results in the amino acid change of a phenylalanine to a tyrosine at position 580. |
| Phenotypic information | Heterozygous mice suffer progressive motor neuron degeneration and demonstrate an abnormal clenching of the hind limbs when suspended by the tail. Homozygotes are perinatal lethal. |
| 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 (allele matching)
- muscle spasm / MGI
- motor neuron degeneration / MGI
- decreased motor neuron number / MGI
- abnormal motor neuron innervation pattern / MGI
- impaired coordination / MGI
- abnormal grip strength / MGI
- paralysis / MGI
- no suckling reflex / MGI
- aphagia / MGI
- neuronal intranuclear inclusions / MGI
- abnormal axonal transport / MGI
- decreased spinal cord ventral horn cell number / MGI
- neonatal lethality, complete penetrance / MGI
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
- SHIRPA, a protocol for behavioral assessment: validation for longitudinal study of neurological dysfunction in mice.;Rogers D C, Peters J, Martin J E, Ball S, Nicholson S J, Witherden A S, Hafezparast M, Latcham J, Robinson T L, Quilter C A, Fisher E M, ;2001;Neuroscience letters;306;89-92; 11403965