| 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 |
| 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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| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Orphanet associated rare diseases, based on orthologous gene matching
