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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Dstdt-27J
dystonia musculorum 27 Jackson
MGI:1858037
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Dstdt-27J/Dstdt-27J B10.PL/(73NS)Sn-Dstdt-27J/J MGI:3616980
ht2
Dstdt-27J/Dst+ B10.PL/(73NS)Sn-Dstdt-27J/J MGI:3616982


Genotype
MGI:3616980
hm1
Allelic
Composition
Dstdt-27J/Dstdt-27J
Genetic
Background
B10.PL/(73NS)Sn-Dstdt-27J/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dstdt-27J mutation (0 available); any Dst mutation (557 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• at P3, most of the Schwann cells appear to have arrested after one and half turns around the axon (the promyelinating stage) and many display an abnormal morphology, with the inner and outer lips being duplicated
• at P15, observe a 4- to 5-fold increase in the number of Schwann cell nuclei per root, however no difference in the total number of axons per root
• primary cultures of Schwann cells from the sciatic nerve have abnormal morphology, polarization, matrix attachment, and perturbed organization of the microtubule network
• reduction in the axonal caliber in the peripheral nerves (J:48174)
• observe a variation of axon caliber in the myelinated fibers still remaining in sciatic nerves (J:91505)
• reduction in myelin sheath thickness in the peripheral nervous system
• progressive sensory neuron degeneration that begins by E15.5
• do not observe an increase in acetylcholinesterase activity in the DRG between P1 and P14 as in wild-type
• cytoskeletal network of dorsal root axons is perturbed, with disorganized intermediate filament and microtubule networks (J:47356)
• dorsal roots are smaller, however ventral roots are normal (J:47356)
• degeneration of the large myelinated axons in the dorsal root (J:91495)
• severe loss of axons in the sciatic nerve at P15
• sciatic nerves are smaller, contain fewer axon profiles, have a reduction in myelinated fibers and show an abundance of denervated Schwann cells
• sciatic nerve axons contain disorganized neurofilament and microtubule networks
• decrease in acetylcholinesterase activity in the sciatic nerves at P14 compared to wild-type
• degeneration of the large myelinated axons in the dorsal root (J:91495)
• axonal degeneration in the sciatic nerve, with the total number of surviving axons in sciatic nerves 37% lower than in wild-type (J:91505)
• sensory neuron degeneration begins by E15.5 and progresses gradually, continuing through the rest of embryogenesis and postnatal development
• exhibit abundant amyelinated large and small caliber axons
• when myelin is present, unusual myelin figures around axons or myelin accumulation in the Schwann cell cytoplasm are frequently observed
• exhibit delayed, reduced and aberrant myelination in the peripheral nerves, but not in the CNS, especially hypomyelination of the ventral and dorsal roots (J:48174)
• segmental demyelination is frequently seen in the dorsal root (J:91495)
• segmental demyelination is occasionally seen in sciatic nerve axons (J:91505)
• fast axonal transport of acetycholinesterase is impaired in the neurons of sciatic nerves




Genotype
MGI:3616982
ht2
Allelic
Composition
Dstdt-27J/Dst+
Genetic
Background
B10.PL/(73NS)Sn-Dstdt-27J/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dstdt-27J mutation (0 available); any Dst mutation (557 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• frequently observe double myelin figures within the same Schwann cell cytoplasm
• reduction in the axonal caliber in peripheral nerves
• abnormal myelination of peripheral nerves, with some ventral root axons appearing hypermyelinated relative to their axonal caliber and about 4% of small caliber axons amyelinated, however heterozygotes do not present any behavioral phenotypes or sensory neuron degeneration





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory