Phenotypes associated with this allele

• Allele Symbol: Dst^dt
• Allele Name: dystonia musculorum
• Allele ID: MGI:1856019
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dst^dt/Dst^dt	involves: C57BL/6 * Q	MGI:3819148
hm2	Dst^dt/Dst^dt	involves: Q	MGI:3819147
hm3	Dst^dt/Dst^dt	Q-Dst^dt	MGI:3819146

Genotype
MGI:3819148

hm1

• Allelic Composition: Dst^dt/Dst^dt
• Genetic Background: involves: C57BL/6 * Q

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

nervous system

demyelination ( J:6491 )

• 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: Dst^dt/Dst^dt
• Genetic Background: involves: Q

mortality/aging

premature death ( J:5674 )

• originally some mice survive for months but successive generations exhibit lethality by 3 to 4 weeks of age

behavior/neurological

limb grasping ( J:5674 )

dystonia ( J:5674 )

impaired limb coordination ( J:5674 )

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

nervous system

neurodegeneration ( J:5674 )

• 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

dystonia ( J:5674 )

Genotype
MGI:3819146

hm3

• Allelic Composition: Dst^dt/Dst^dt
• Genetic Background: Q-Dst^dt

mortality/aging

premature death ( J:64095 )

• mice die by 3 to 4 weeks of age

behavior/neurological

dystonia ( J:64095 )

paresis ( J:64095 )

• mice develop spastic paralysis

nervous system

abnormal nervous system morphology ( J:5330 )

• in the peripheral nervous system

gliosis ( J:5330 )

• in the central nervous system

neurodegeneration ( J:5330 )

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

axonal dystrophy ( J:5330 )

muscle

dystonia ( J:64095 )