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Phenotypes Associated with This Genotype
Genotype
MGI:5475097
Allelic
Composition
Ei24tm1Hzha/Ei24tm1Hzha
Tg(Nes-cre)1Kln/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ei24tm1Hzha mutation (0 available); any Ei24 mutation (41 available)
Tg(Nes-cre)1Kln mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Limb-clasping in Ei24tm1Hzha/Ei24tm1Hzha Tg(Nes-cre)1Kln/0 mice

homeostasis/metabolism
• impaired autophagic flux in the brain and spinal cord at 4 months

mortality/aging
• 50% of mice die by 16 weeks
• all mice die by 19 weeks

nervous system
N
• mice do not exhibit accumulation of TDP-43 (Tardbp) aggregates in motor neurons
• neural abnormalities increase progressively with age
• thin white matter between the cortex and hippocampal pyramidal cells
• reduced ratio of cortical to dorsoventral thickness
• shrunken appearance
• vacuolated cells in the cingulate cortex and to a lesser extent in other cortices, hippocampus, thalamus, and hypothalamus
• vacuolated cells in the white matter regions including the corpus callosum, the alveus of the hippocampus and the internal capsule
• in the cerebrum, cerebellum and spinal cord
• numerous vacuolated cells in the spinal cord gray and white matter
• irregularly arranged in the alveus of the hippocampus
• thinned and split in the deep cerebellar nuclei axons
• in cortical layers 1 through 4
• reduced interneuron numbers in the anterior horn of the lumbar spinal cord
• however, the number of motor neurons is normal
• in the fifth layers of the motor and sensory cortices
• in the cerebrum, cerebellum and spinal cord that increase in number and size with age
• massive
• of Purkinje cell axons
• of Purkinje cell axon terminals
• eosinophilic spheroids in the cortex
• large eosinophilic spheroids in the deep cerebellar nuclei

behavior/neurological
• motor and behavioral deficits beginning at 6 weeks and progressively worsening
• beginning at 6 weeks and progressively worsening
• hyperextended position of hind limbs
• in 8 of 12 mice at 6 weeks
• in all mice at 8 weeks
• at 8 weeks
• at 12 weeks
• at 3 months

growth/size/body
• by 3 months

cellular
• impaired autophagic flux in the brain and spinal cord at 4 months


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
08/13/2019
MGI 6.14
The Jackson Laboratory