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Phenotypes Associated with This Genotype
Genotype
MGI:4999603
Allelic
Composition
Fa2htm1.1Hama/Fa2htm1.1Hama
Genetic
Background
involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fa2htm1.1Hama mutation (0 available); any Fa2h mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• nerve conduction velocities and compound muscle action potentials are similar to controls
• decrease in myelin lipid levels in the cerebellum compared to controls at 12 months of age but not at 3 months of age
• while the overall number of Purkinje cells is similar to controls, regions with smaller sized or absent Purkinje neurons relative to controls are seen
• hypertrophic astrocytes are noted in the optic nerve
• axons in the optic nerve and spinal cord have abnormally dense cytoplasm, abnormal accumulations of organelles, and myelin sheaths are detected that do not surround an identifiable axon
• regions of profound axon loss are seen in several optic nerves
• grossly enlarged axons usually containing whorls of disorganized neurofilaments as well as dense bodies, lysosomes, and mitochondria are seen
• some enlarged axons are surrounded by an attenuated myelin sheath
• only occasional axons with attenuated myelin sheaths are detected in the sciatic nerve
• axon loss and demyelination are seen in the optic nerve
• in regions where myelinated axons are largely absent mononuclear cells (likely macrophages or microglia) are present
• hypertrophic astrocytes are noted in the optic nerve
• of some optic nerve axons

homeostasis/metabolism
• decrease in myelin lipid levels in the cerebellum compared to controls at 12 months of age but not at 3 months of age
• in the spinal cord at 14 months of age
• hFA-GalCer galactolipids are absent from the brain, spinal cord, and sciatic nerve
• total galactolipid levels are lower compared to heterozygous controls
• total loss of brain hFA-galactolipids at 3 months of age

behavior/neurological
• impairment in reversal learning in a water T maze at 3 months of age
• impaired motor learning at 12 months of age
• impairment is first detected at 7 months of age
• impairment in initial and reversal learning in a morris water maze at 4 months of age
• at 12 months of age on a rotarod at all speeds greater than 4 rpm
• impairment is first detected at 7 months of age
• at 12 months of age
• reduction in vertical activity is more severe than that in horizontal activity
• decrease in spontaneous activity at 12 months of age

vision/eye
• axon loss and demyelination are seen in the optic nerve
• in regions where myelinated axons are largely absent mononuclear cells (likely macrophages or microglia) are present
• hypertrophic astrocytes are noted in the optic nerve

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
hereditary spastic paraplegia 35 DOID:0110786 OMIM:612319
J:171655


Contributing Projects:
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
08/03/2022
MGI 6.21
The Jackson Laboratory