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Phenotypes Associated with This Genotype
Genotype
MGI:3711235
Allelic
Composition
Cadps2tm1Tfr/Cadps2tm1Tfr
Genetic
Background
C57BL/6-Cadps2tm1Tfr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cadps2tm1Tfr mutation (0 available); any Cadps2 mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• granule cell migration through the cerebella is delayed
• mice exhibit several abnormal cell phenotypes in the brain
• at P17, there are significantly fewer parvalbumin+ interneurons in the neocortex
• however, this decrease can be rescued by BDNF injection
• the diameter of the presynapses are increased and the number of divided postsynaptic densities is increased
• at P17, the EGL remains thick when in wild-type it is barely visible
• however, by P28 the EGL is no longer detected
• the terminal buttons of parallel fibers (PF) are larger and vesicles around the extrasynaptic sites are reduced in number
• Purkinje cells (PC) have a severe reduction in the extent of spiny dendritic arborization
• mice have 41% of the calbindin+ Purkinje cells found in wild-type mice due to cell death
• however, this decrease can be rescued by BDNF treatment
• intercrural fissures between lobules VI and VII are deficient
• cerebellar neuron differentiation is severely impaired
• arborization is reduced to about half the average length of wild-type
• apoptosis in cerebellar neurons is increased
• HOKR phase is significantly delayed
• HOKR gain and plasticity is impaired

behavior/neurological
• deficits in circadian rhythmicity
• retention of spatial memory in a Morris water maze test is impaired
• mice explore less and/or exhibit increased anxiety when placed in a novel environment
• in an 8 arm radial maze mice show decreased locomotor activity and lower arm entries
• mice explore less and/or exhibit increased anxiety when placed in a novel environment
• when a novel object is placed within an open field mice are less active and make fewer contacts with the object
• HOKR phase is significantly delayed
• HOKR gain and plasticity is impaired
• performance on a rotarod treadmill is low to moderate
• however, by P56 mice perform normally
• deficits in sleep-wake regulation
• female mice neglect newborns regardless of their genotype
• frequency of social interactions when mice who have never interacted are placed within a cage for 20 minutes is decreased

growth/size/body

cellular
• granule cell migration through the cerebella is delayed

Mouse Models of Human Disease
OMIM ID Ref(s)
Autism 209850 J:121256


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory