Phenotypes Associated with This Genotype

Genotype
MGI:8253355

• Allelic Composition: Nr2f1^em1Cpsc/Nr2f1⁺
• Genetic Background: C57BL/6J-Nr2f1^em1Cpsc

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

growth/size/body

decreased body weight ( J:373120 )

• mice show reduced body weight at P4, P8, P12, P20, P30 and P100

behavior/neurological

impaired avoidance learning behavior ( J:373120 )

• in the active place avoidance test, mice receive a 484% increase in number of shocks over training trials and spend more time (652% increase) in the shock zone during training

• mice require more trials to learn to identify and avoid the shock zone indicating impairments in learning

impaired active avoidance behavior ( J:373120 )

• in the active place avoidance test, mice spend more time in the previously active zone during the memory trial, suggesting a deficit in spatial memory recall

increased exploration in new environment ( J:373120 )

• in the elevated plus maze, mice travel a greater distance (30%) suggesting enhanced exploratory behavior

• in the open field test, mice travel a greater distance (24%)

decreased anxiety-related response ( J:373120 )

• in the elevated plus maze, mice travel a greater distance (30%), spend more time in the open arms (40%), and enter the open arms more frequently (by 40%), suggesting enhanced exploratory behavior or reduced anxiety-like behavior

• in the open field test, mice travel a greater distance (24%) and spend more time (218%) in the center of the arena

• however, mice do not show abnormalities in the dark-light box test or in the hole board test

decreased social novelty preference ( J:373120 )

• mice spend 30% less time in the intruder compartment during trial 3 of the social interaction test and 41% more time in the littermate compartment, showing reduced social interest in novel mice and mice spend less time in the close-contact zone with the intruder

abnormal voluntary movement ( J:373120 )

• in the 24-hour home cage monitoring test, mice show increased climbing frequency, but all other parameters remain unchanged

abnormal locomotor coordination ( J:373120 )

• increase in front paw width, however the width between the hind paws is normal

• mice display altered girdle coupling of the right-front paw to the left-hind paw

• although the total number of step sequences is unchanged, mice show a 12.1% increase in AB step sequence usage and a 7.1% decrease in AA step sequence usage indicating that specific parameters corresponding to coordination and balance are impaired

abnormal vocalization ( J:373120 )

• call power and tonality are diminished at P4 but are normal at P8

• mice show a reduced slope of call frequency at P12

• the proportion of complex calls is reduced at P4 and P12, but not at P8

decreased vocalization ( J:373120 )

• pups show a reduction in the number of ultrasonic vocalizations at P4, with the number of calls reduced by 80%

• mice exhibit reduced average call duration at P4

• however, by P8 and P12, no differences in call frequency are seen

nervous system

enlarged lateral ventricles ( J:373120 )

• mice exhibit a tendency for enlarged lateral ventricles at P7 which becomes significant starting at P28

• adult mice show an increase in lateral ventricle size of 163%

• however, overall total brain volume is unchanged and no obstruction is seen in the cerebroventricular system

decreased corpus callosum size ( J:373120 )

• mice show corpus callosum thinning at P28, with a 22% reduction

small hippocampus ( J:373120 )

• hippocampal size is reduced by 23% at P28 and persists into adulthood, with a 22% reduction

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Bosch-Boonstra-Schaaf optic atrophy syndrome		DOID:0112226	OMIM:615722	J:373120