Phenotypes associated with this allele
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hexatm1Rlp mutation
(1 available);
any
Hexa mutation
(26 available)
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nervous system
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• levels reach 15% of total gangliosides
• accumulation of GM2 gangliosides
levels reach 15% of total gangliosides
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• number of storage neurons with membranous cytoplasmic bodies increases with age
• distribution of storage neurons found in cerebral cortex, piriform and entorhinal cortices, CA3, amygdala, mammillary bodies, septal nuclei, and nuclei in the hypothalamus
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mortality/aging
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• life span of 1-4 months
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behavior/neurological
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• decline in motor functions begins before 3 months of age
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• impaired performance in a rotarod test is significantly greater than in either singly homozygous mouse
• poor performance in a "wire hang" test
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• decreased horizontal activity
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nervous system
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• vacuolated macrophage found throughout the central nervous
system
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• swollen cell bodies in all neurons of the brain, trigeminal ganglia, and dorsal root ganglia
• storage cells in addition to neurons found througout the central nervous system and peripheral nerves
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• hypomyelination of the corpus callosum was seen with some myelination seen in the posterior third
• more moderate mypomyelination seen in the cerebellar white matter, brain stem and spinal cord
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homeostasis/metabolism
craniofacial
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• chalky white, unusually thickened and brittle by 4 to 4.5 months of age
(J:41920)
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• frontal bossing of the skull
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skeleton
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• chalky white, unusually thickened and brittle by 4 to 4.5 months of age
(J:41920)
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• frontal bossing of the skull
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• articular cartilage of ribs with enlarged and vacuolated chondrocytes
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• abnormally shaped rib cage
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• articular cartilage of vertebrae with enlarged vacuolated chondrocyte
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• boney trabeculae are thickened and irregular
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vision/eye
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• vacuolated macrophage found in the eye
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hearing/vestibular/ear
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• unresponsive to sharp noises
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growth/size/body
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• frontal bossing of the skull
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• indistinguishable at birth but smaller in size by 4-5 weeks
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reproductive system
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• do not breed successfully
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renal/urinary system
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• elevated levels of some monosaccharides in urine
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• glycosaminoglycan fragments in urine are elevated 50-fold
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limbs/digits/tail
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• feet thickened with flexion contractures of digits
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