STOCK Dync1h1^Loa/H

Status	Available to order
EMMA ID	EM:01847
Citation information	RRID:IMSR_EM:01847 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	STOCK Dync1h1^Loa/H
Alternative name	Legs at odd angles
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Dync1h1^Loa
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 Dync1h1^Cra1 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	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

Archiving centre	Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom

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

IMPC phenotypes (gene matching)

MGI phenotypes (allele matching)

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

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

Information from provider