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Phenotypes Associated with This Genotype
Genotype
MGI:6754175
Allelic
Composition
Elp2em2Bjw/Elp2em2Bjw
Genetic
Background
involves: C57BL/6 * DBA/2J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Elp2em2Bjw mutation (0 available); any Elp2 mutation (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• lifespan is to P120

growth/size/body
• developmental delay characterized by reduced body size and weight

behavior/neurological
• mice show an increase in self-grooming time and number of self-grooming bouts
• mice exhibit motor defects
• mice exhibit reduced number and duration of ultrasonic calls

nervous system
• reduction in post-mitotic neurons relative to apical progenitors and a decreased number of newborn intermediate progenitors, suggests a failure of apical progenitors to switch towards neuron generation
• a greater proportion of neural progenitors exit the cell cycle in the brains of embryos compared to control embryos
• neural progenitors isolated from developing cortices form fewer neurospheres and smaller neural neurospheres, indicating reduced self-renewal capacity
• the number of post-mitotic neurons comprising the cortical plate is reduced at E14.5
• 2-month-old mice show a decrease in cortical and hippocampal parvalbumin (PV)-expressing interneurons
• reduction in white matter and cortical volume
• aberrant organization and composition of the main cortical tracts; the hippocampal commissure and anterior commissure and internal capsules show reduced fractional anisotropy, while the axial diffusivity is not altered, and radial diffusivity is increased across all cortical tracts
• connectome profiling shows a hyperconnectivity across long- and short-range connections in the brains, predominately in structures within the limbic system, the salience network, and the cerebellum
• brains exhibit decreased connectivity throughout nodes of the default mode network and corpus callosum; corpus callosum is severely affected, including its midline and peripheral sections towards the external capsule
• somatosensory cortex shows a decrease in both the upper and deep cortical layers
• fetuses (E14.5) show reduced thickness of the cerebral cortex which persists in neonatal (P7) and adult (2 months of age) mice
• massive Purkinje neuron degeneration in the cerebella
• cortical projection neurons show a severe decrease in total dendritic length, and fewer intersections in concentric circles of increasing radius indicating a branching defect
• cortical neurons show reduced spine density along dendrites
• apical progenitors in the ventricular zone, intermediate progenitors in the sub-ventricular zone and post-mitotic neurons comprising the cortical plate are all reduced in number at E14.5

muscle
• decrease in limb tone

cellular
• reduction in post-mitotic neurons relative to apical progenitors and a decreased number of newborn intermediate progenitors, suggests a failure of apical progenitors to switch towards neuron generation
• a greater proportion of neural progenitors exit the cell cycle in the brains of embryos compared to control embryos
• neural progenitors isolated from developing cortices form fewer neurospheres and smaller neural neurospheres, indicating reduced self-renewal capacity

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autism spectrum disorder DOID:0060041 J:306113
intellectual disability DOID:1059 J:306113


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
06/12/2024
MGI 6.13
The Jackson Laboratory