Phenotypes Associated with This Genotype

Genotype
MGI:3711235

• Allelic Composition: Cadps2^tm1Tfr/Cadps2^tm1Tfr
• Genetic Background: C57BL/6-Cadps2^tm1Tfr

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

nervous system

abnormal cerebellar granule cell migration ( J:120106 )

• granule cell migration through the cerebella is delayed

abnormal brain morphology ( J:121256 )

• mice exhibit several abnormal cell phenotypes in the brain

abnormal brain interneuron morphology ( J:121256 )

• at P17, there are significantly fewer parvalbumin+ interneurons in the neocortex

• however, this decrease can be rescued by BDNF injection

abnormal cerebellum morphology ( J:120106 )

• the diameter of the presynapses are increased and the number of divided postsynaptic densities is increased

abnormal cerebellum external granule cell layer morphology ( J:120106 )

• 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

abnormal Purkinje cell dendrite morphology ( J:120106 )

• Purkinje cells (PC) have a severe reduction in the extent of spiny dendritic arborization

decreased Purkinje cell number ( J:121256 )

• 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

abnormal cerebellum fissure morphology ( J:120106 )

• intercrural fissures between lobules VI and VII are deficient

abnormal neuron specification ( J:120106 )

• cerebellar neuron differentiation is severely impaired

• arborization is reduced to about half the average length of wild-type

• apoptosis in cerebellar neurons is increased

abnormal paired-pulse facilitation ( J:120106 )

• HOKR phase is significantly delayed

• HOKR gain and plasticity is impaired

behavior/neurological

abnormal spatial reference memory ( J:121256 )

• retention of spatial memory in a Morris water maze test is impaired

abnormal emotion/affect behavior ( J:121256 )

decreased exploration in new environment ( J:121256 )

• 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

increased anxiety-related response ( J:121256 )

• mice explore less and/or exhibit increased anxiety when placed in a novel environment

abnormal response to novel object ( J:121256 )

• when a novel object is placed within an open field mice are less active and make fewer contacts with the object

abnormal optokinetic reflex ( J:120106 )

• HOKR phase is significantly delayed

• HOKR gain and plasticity is impaired

impaired coordination ( J:120106 )

• performance on a rotarod treadmill is low to moderate

• however, by P56 mice perform normally

hyperactivity ( J:121256 )

abnormal circadian behavior ( J:121256 )

• deficits in circadian rhythmicity

abnormal sleep pattern ( J:121256 )

• deficits in sleep-wake regulation

abnormal social/conspecific interaction behavior ( J:121256 )

abnormal maternal nurturing ( J:121256 )

♀ • female mice neglect newborns regardless of their genotype

abnormal social investigation ( J:121256 )

• frequency of social interactions when mice who have never interacted are placed within a cage for 20 minutes is decreased

growth/size/body

decreased body weight ( J:121256 )

cellular

abnormal cerebellar granule cell migration ( J:120106 )

• granule cell migration through the cerebella is delayed

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:121256