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Phenotypes Associated with This Genotype
Genotype
MGI:5505671
Allelic
Composition
Epg5tm1Ygz/Epg5tm1Ygz
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Epg5tm1Ygz mutation (0 available); any Epg5 mutation (70 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Epg5tm1Ygz/Epg5tm1Ygz mice show motor deficits

mortality/aging
• male mice start to die after 10 months (J:196603)
• female mice exhibit later phenotype compared with male mice (J:196603)
• mice start to die at 10 months of age, however some survive longer (J:279837)

homeostasis/metabolism
• impaired in neurons and glial cells, atrophic gastrocnemius (but not adductor longus and vastus medialis), adipose tissue and liver
• impaired autophagosome maturation in mouse embryonic fibroblasts
• retinas exhibit defective autophagic flux as indicated by accumulation of SQSTM1 aggregates and ubiquitin+ inclusions in the retinal ganglion layer (GCL), inner pexiform layer (IPL), inner nuclear layer (INL), outer plexiform layer (OPL), outer nuclear layer (ONL), and retinal pigment epithelium (RPE)

vision/eye
• photoreceptors undergo apoptotic cell death
• number of cones is reduced by 15% in 5-month old mice
• approximate 30% reduction in inner segment and outer segment thickness at 6 months of age
• the inner segment is barely detected at 15 months
• approximate 30% reduction in inner segment and outer segment thickness at 6 months of age
• thickness of the outer segment is reduced by about 75% compared to controls at 10 months of age and is barely detected at 15 months
• progressive photoreceptor degeneration
• massive degeneration of rods
• approximate 25% and 50% reduction in outer nuclear layer thickness at 6 and 10 months of age, respectively
• however, the number of retinal pigment epithelium cells is not reduced at 10 months of age
• amplitude of the ERG response is lower in the mixed a-wave and mixed b-wave, indicating impairments in mixed rod and cone function
• mice show a reduced response in photopic tests (photopic b-wave and 30 Hz flicker), indicating impaired cone function
• amplitude of the ERG response is lower in the scotopic b-wave, indicating impairments in rod function

nervous system
• in the cerebrum, cerebellum and spinal cord
• slightly irregular pattern of nerve fibers in the alveus
• in layer 5 of the motor and sensory cortices
• reactive astrogliosis is increased throughout the retinas, including ONL, INL, OPL, IPL and GCL
• muscle denervation progressing from hindlimb to forelimb
• many of the remaining motor neurons are pyknotic atropic in the cortex
• in the anterior horn of the cervical, thoracic and lumbar spinal cord
• number of cones is reduced by 15% in 5-month old mice
• approximate 30% reduction in inner segment and outer segment thickness at 6 months of age
• the inner segment is barely detected at 15 months
• approximate 30% reduction in inner segment and outer segment thickness at 6 months of age
• thickness of the outer segment is reduced by about 75% compared to controls at 10 months of age and is barely detected at 15 months
• progressive photoreceptor degeneration
• massive degeneration of rods
• accumulation of LC3, p62 aggregates and ubiquitin+ inclusions in the neuron and glials cells
• eosinophilic spheroids of swollen degenerating axons in the dorsal corticospinal tract of the cervical, thoracic and lumbar spinal cord

muscle
• vacuolated fibers at 10 months
• muscle denervation and myofiber degeneration
• muscle wasting at 10 months
• irregularly shaped atrophic fibers at 10 months

behavior/neurological
• at 10 months
• stiff hindlimbs at 10 months
• progressively worsening
• female mice exhibit later phenotype compared with male mice
• at 4 months, progressive
• at 10 months
• female mice exhibit later phenotype compared with male mice

adipose tissue
• smaller multilocular lipid droplets

growth/size/body
• female mice exhibit later phenotype compared with male mice

cellular
• enlarged in muscles
• impaired in neurons and glial cells, atrophic gastrocnemius (but not adductor longus and vastus medialis), adipose tissue and liver
• impaired autophagosome maturation in mouse embryonic fibroblasts
• retinas exhibit defective autophagic flux as indicated by accumulation of SQSTM1 aggregates and ubiquitin+ inclusions in the retinal ganglion layer (GCL), inner pexiform layer (IPL), inner nuclear layer (INL), outer plexiform layer (OPL), outer nuclear layer (ONL), and retinal pigment epithelium (RPE)
• photoreceptors undergo apoptotic cell death

integument
• at 10 months

immune system
• in the cerebrum, cerebellum and spinal cord

liver/biliary system
N
• hepatic lobular structure is normal

skeleton
• at 10 months
• female mice exhibit later phenotype compared with male mice

hematopoietic system
• in the cerebrum, cerebellum and spinal cord


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
01/31/2023
MGI 6.22
The Jackson Laboratory