Phenotypes Associated with This Genotype

Genotype
MGI:8253368

• Allelic Composition: Nr2f1^em1Ics/Nr2f1⁺
• Genetic Background: B6J.B6N-Nr2f1^em1Ics

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

growth/size/body

decreased body weight ( J:373120 )

• mice show a decrease in body weight at P100

• however, body weight is normal at P4, P8, P12, P20, and P30

behavior/neurological

impaired avoidance learning behavior ( J:373120 )

• in the active place avoidance test, mice receive 188% increase in number of shocks over training trials and spend more time (197% increase) in the shock zone during training

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

increased exploration in new environment ( J:373120 )

• in the elevated plus maze, mice enter the open arms more frequently by 27%, suggesting enhanced exploratory behavior or reduced anxiety-like behavior

• in the 24-hour home cage monitoring test, mice show an increase in overall distance traveled

decreased anxiety-related response ( J:373120 )

• in the elevated plus maze, mice enter the open arms more frequently by 27%, suggesting enhanced exploratory behavior or reduced anxiety-like behavior

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

abnormal motor capabilities/coordination/movement ( J:373120 )

• mild, but evident, motor dysfunction

abnormal voluntary movement ( J:373120 )

• in the 24-hour home cage monitoring test, mice show a reduction in climbing distance

abnormal locomotor coordination ( J:373120 )

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

• the proportion of time the ipsilateral forelimb and hindlimb remain in contact with the walkway is reduced, however diagonal and girdle support are not altered

• 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 15.1% increase in AB step sequence usage and a 9.9% decrease in AA step sequence usage indicating that specific parameters corresponding to coordination and balance are impaired

increased social investigation ( J:373120 )

• mice show an increase in time spent in the close-contact zone with a littermate, possibly suggesting heightened attachment to familiar conspecifics

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 76%

• 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 155%

• 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 40% reduction

small hippocampus ( J:373120 )

• hippocampal size is reduced by 26% at P28

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