Phenotypes Associated with This Genotype

Genotype
MGI:5750066

• Allelic Composition: Jakmip1^{tm1(KOMP)Vlcg}/Jakmip1^{tm1(KOMP)Vlcg}
• Genetic Background: involves: C57BL/6NTac

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

behavior/neurological

abnormal learning/memory/conditioning ( J:228732 )

• mice exhibit increased perseveration in the T maze, showing fewer alterations than wild-type mice

abnormal cued conditioning behavior ( J:228732 )

• mice are able to learn to freeze to a tone after tone-shock pairings during the acquisition phase of fear conditioning but show decreases in freezing during the second and third intertone intervals

• however, mice show normal context dependent fear conditioning

• mice show decreased noise-cued fear response suggesting disrupted amygdala/auditory pathway function

decreased anxiety-related response ( J:228732 )

• in the light-dark box test, mice show a trend toward spending more time in the light compartment compared to the dark compartment, a reduction of latency to enter the light compartment, and increased border crossings suggesting either reduced anxiety or increased impulsivity

• mice bury fewer marbles than wild-type mice and show decreased digging, indicating increased impulsivity or decreased anxiety

increased grooming behavior ( J:228732 )

• mice exhibit increased grooming

• however, mice show normal performance on tests of sensory acuity, nesting, and open-field activity

abnormal impulsive behavior control ( J:228732 )

• in the light-dark box test, mice show a trend toward spending more time in the light compartment compared to the dark compartment, a reduction of latency to enter the light compartment, and increased border crossings suggesting either reduced anxiety or increased impulsivity

• mice bury fewer marbles than wild-type mice and show decreased digging, indicating increased impulsivity or decreased anxiety

impaired coordination ( J:228732 )

• mice perform poorly on the accelerating rotarod and wire hang test, indicating abnormal motor function

increased stereotypic behavior ( J:228732 )

• mice exhibit repetitive jumping behavior

abnormal social/conspecific interaction behavior ( J:228732 )

• mice show social dysfunction in the three-chamber task

• however, mice exhibit normal olfaction in the buried food test

abnormal huddling behavior ( J:228732 )

• mice take longer to return to huddle during the postnatal period than wild-type mice

excessive vocalization ( J:228732 )

• mice exhibit an increase in vocalizations and various call types across all time points tested

nervous system

abnormal dorsal striatum morphology ( J:228732 )

• reduction in caudate and putamenal volume at 2 and 10 months of age

abnormal cerebellum morphology ( J:228732 )

• reduction in cortex and cerebellum volume of 2 and 10 month old mice

abnormal nervous system electrophysiology ( J:228732 )

• the charge of the AMPAR-mediated responses is increased in juvenile median-sized spiny neurons due to an increased duration of the slowly desensitizing component

• however, in adults no difference in charge of AMPAR-mediated responses is seen

• a proportion of median-sized spiny neurons (postnatal 25%, adult 16%) showing an AMPAR-mediated response fail to display an NMDAR-mediated response

• the population of responding postnatal median-sized spiny neurons show a greater NMDAR-mediated response than wild-type median-sized spiny neurons, with the charge and decay time significantly increased

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autism spectrum disorder		DOID:0060041		J:228732