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Phenotypes Associated with This Genotype
Genotype
MGI:6490343
Allelic
Composition
Matr3em1Tcp/Matr3em1Tcp
Genetic
Background
C57BL/6J-Matr3em1Tcp
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Matr3em1Tcp mutation (0 available); any Matr3 mutation (71 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice reach end-stage earlier

growth/size/body
• mice show a size difference beginning at 20 weeks of age and onwards
• mice fail to gain weight at the same rate as controls starting at 15 and 21 weeks of age for males and females, respectively
• weight plateaus until 60 weeks of age, at which point some mice start to show significant weight loss and reach endpoint

behavior/neurological
• males show reduced freezing time in the contextual fear conditioning tests
• however, females show no differences in this test
• males show reduced freezing time in the cued fear conditioning test
• however, females show no differences in this test
• mice exhibit a delayed righting reflex at 40 weeks of age; the righting time increases with age and is seen in almost all mice by 60 weeks of age
• about 73% of mice begin to show a limb clasping phenotype at 20 weeks of age
• mice exhibit ataxia, severe gait disturbances and occasional hind limb dragging near end-stage
• starting at 10 weeks of age, mice exhibit reduced latency to fall off the rotarod and progressively worsen with age
• mice are slower and have greater difficulty crossing the dowl and progressively worsen over time
• mice exhibit a reduction in muscle strength at 30 and 55 weeks of age using the inverted grid test
• mice exhibit reduced length of time standing on their hind limbs starting at 10 weeks of age and decreases with age

nervous system
• mice show increased activated microglia in the cerebellum and lower lumbar spinal cord at 30 weeks of age
• extensive loss of Purkinje cells is seen in 60-week old mice
• reduction in cerebellum size in 60-week old mice but not in 6-week old mice
• mice show increased astrogliosis in the cerebellum at 30 weeks of age
• mice exhibit an increase in the percentage of partially denervated endplates, indicating affected neuromuscular junctions
• mice exhibit smaller endplate sizes in tibialis anterior muscles
• mice show an increase in the number of neurofilament accumulations near the presynaptic terminals, suggesting axonal degeneration
• mice at end-stage exhibit spheroids in the granule cell layer

muscle
• average tibialis anterior and gastrocnemius muscle fiber sizes are reduced
• however, no prominent mopathic changes are seen

hematopoietic system
• mice show increased activated microglia in the cerebellum and lower lumbar spinal cord at 30 weeks of age

immune system
• mice show increased activated microglia in the cerebellum and lower lumbar spinal cord at 30 weeks of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
amyotrophic lateral sclerosis type 21 DOID:0060212 OMIM:606070
J:298091


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
02/23/2021
MGI 6.16
The Jackson Laboratory