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Phenotypes Associated with This Genotype
Genotype
MGI:6467327
Allelic
Composition
Nfixtm1.1Rmg/Nfix+
Genetic
Background
involves: 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfixtm1.1Rmg mutation (0 available); any Nfix mutation (49 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice can learn facets of the active place avoidance task but their performance is reduced compared to wild-type mice indicating learning and memory deficits
• mice show learning deficits in the active place avoidance task
• in the active place avoidance task, mice receive more shocks on days 3, 4, and 5 and receive their first shock earlier on days 4 and 5, indicating poor long-term memory
• in the active place avoidance task, mice show a shorter latency to the second entry to the shock zone on days 4 and 5, and show a shorter maximum time of avoiding the shock zone indicating impaired short-term memory
• in the 3-chambered sociability task, mutant mice show no differences in the time spent between the first conspecific mouse and the empty chamber compared to wild-type mice which spend more time with the first conspecific mouse, indicating no overall social preference for the unfamiliar mouse over an empty chamber
• in the second trial of the 3-chambered sociability task, mice show no preference for either the novel or first conspecific mouse in the first minute of the test while wild-type mice spend more time with the novel mouse

nervous system
• increase in thickness of the cortical plate
• mice exhibit increased brain volume (megalencephaly), with the cerebral cortex showing the highest increase
• the three largest volume increases in the brain include the corpus callosum (25.46%), neocortex (23.11%) and anterior commissure (17.52%)
• adults show aberrant microstructure of major forebrain commissure tracts (the corpus callosum, the hippocampal commissure and the anterior commissure)
• commissures show reduced fractional anisotropy and reduced radial diffusivity indicating loss of microstructural integrity and reduced directional coherence and abnormal fanning and bending of white matter tracts
• fiber tracts of the major forebrain commissures are aberrantly dispersed
• the tract density intensity of the hippocampal commissure is decreased indicating that axonal tracts are less densely packed
• fiber tracts of the major forebrain commissures are aberrantly dispersed, most prominently in the anterior commissure which shows an abnormally high number of tracts in the dorsal-ventral direction compared to wild-type mice
• the tract density intensity of the anterior commissure is decreased indicating that axonal tracts are less densely packed
• the retrosplenial cortex is increased by 27.79%
• the retrosplenial cortex shows an increase in Satb2+ upper layer neurons, Olig2+ oligodendrocytes, and PDGFRalpha+ oligodendrocytes
• the cingulate cortex is increased by 25.02%
• expansion of cortical layers within the neocortex
• mice show elevated neural and glial cell number within the neocortex
• thickness of the neocortex is increased
• expansion of cortical thickness is due to an increase in overall cell number while maintaining a normal cellular distribution
• the rostral somatosensory cortex is increased by 19.02%
• caudal somatosensory cortex is increased by 29.49%
• the somatosensory cortex shows an increase in Satb2+ upper layer neurons, Olig2+ oligodendrocytes, PDGFRalpha+ oligodendrocytes, and S100Beta+ astrocytes

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Sotos syndrome 2 DOID:0112102 OMIM:614753
J:295051


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
11/22/2022
MGI 6.22
The Jackson Laboratory