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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Dstdt
dystonia musculorum
MGI:1856019
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Dstdt/Dstdt involves: C57BL/6 * Q MGI:3819148
hm2
Dstdt/Dstdt involves: Q MGI:3819147
hm3
Dstdt/Dstdt Q-Dstdt MGI:3819146


Genotype
MGI:3819148
hm1
Allelic
Composition
Dstdt/Dstdt
Genetic
Background
involves: C57BL/6 * Q
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dstdt mutation (0 available); any Dst mutation (557 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• in the peripheral nervous system, there is some segmental demyelination and other abnormalities of the myelin sheaths
• transplantation experiments with sciatic nerve show that the defect resides in the Schwann cells, not in the axons




Genotype
MGI:3819147
hm2
Allelic
Composition
Dstdt/Dstdt
Genetic
Background
involves: Q
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dstdt mutation (0 available); any Dst mutation (557 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• originally some mice survive for months but successive generations exhibit lethality by 3 to 4 weeks of age

behavior/neurological
• mice alternate between hyperextension and hyperflexion of the limbs but no paralysis is evident

nervous system
• the nervous system shows degenerative changes and progressive loss of nerve fibers in the central and peripheral branches of the sensory ganglion cells of the spinal and cranial nerves, in the central sensory pathways, and in peripheral sensory structures such as skin, Pacinian corpuscles, and muscle spindles
• in animals that survive longer there is also evidence of lower motor neuron involvement

muscle




Genotype
MGI:3819146
hm3
Allelic
Composition
Dstdt/Dstdt
Genetic
Background
Q-Dstdt
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dstdt mutation (0 available); any Dst mutation (557 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die by 3 to 4 weeks of age

behavior/neurological
• mice develop spastic paralysis

nervous system
• in the peripheral nervous system
• in the central nervous system
• mice exhibit loss of nerve fibers with fibrosis in the peripheral and gliosis in the central nervous system

muscle





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory