Phenotypes associated with this allele

• Allele Symbol: Nr2f1⁺
• Allele Name: wild type
• Allele ID: MGI:2439789
• Summary: 7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Nr2f1^tm1Mist/Nr2f1^+	B6.129S2-Nr2f1^tm1Mist/Cnrm	MGI:8253351
ht2	Nr2f1^em1Ics/Nr2f1^+	B6J.B6N-Nr2f1^em1Ics	MGI:8253368
ht3	Nr2f1^em1Cpsc/Nr2f1^+	C57BL/6J-Nr2f1^em1Cpsc	MGI:8253355
ht4	Nr2f1^tm1.1(KOMP)Mbp/Nr2f1^+	C57BL/6N-Nr2f1^tm1.1(KOMP)Mbp/J	MGI:6288608
ht5	Nr2f1^tm1Mjts/Nr2f1^+	involves: 129S7/SvEvBrd	MGI:6434270
cn6	Nr2f1^tm2.1Mjts/Nr2f1^+ Nr2f2^tm2.1Tsa/Nr2f2^tm2.1Tsa Tg(rx3-icre)1Mjam/0	involves: 129S7/SvEvBrd	MGI:4439073
cx7	Mctp1^dwnd/Nr2f1^tm1.1(KOMP)Mbp	involves: C57BL/6J * C57BL/6NJ * C57BL/10SnJ	MGI:6197582

Genotype
MGI:8253351

ht1

• Allelic Composition: Nr2f1^tm1Mist/Nr2f1⁺
• Genetic Background: B6.129S2-Nr2f1^tm1Mist/Cnrm

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

growth/size/body

decreased body weight ( J:373120 )

♂ • males, but not females, show a decrease in body weight at P100

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

behavior/neurological

behavior/neurological phenotype ( J:373120 )

N • mice do not show alterations during the social interaction test, no abnormalities in the dark-light box test or in the hole board test, no changes in anxiety or exploratory behavior, and alternations in the active place avoidance test

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 and no significant step sequence changes are seen

abnormal vocalization ( J:373120 )

• the proportion of complex calls is reduced at P4 and P8

decreased vocalization ( J:373120 )

• pups show a reduction in the number of ultrasonic vocalizations at P4, with the number of calls reduced by 30%

• mice exhibit reduced average call duration at P4 and P8

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

nervous system

decreased corpus callosum size ( J:373120 )

• mice show corpus callosum thinning at P28, with a 17% reduction

Genotype
MGI:8253368

ht2

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

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

Genotype
MGI:8253355

ht3

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

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

Genotype
MGI:6288608

ht4

• Allelic Composition: Nr2f1^{tm1.1(KOMP)Mbp}/Nr2f1⁺
• Genetic Background: C57BL/6N-Nr2f1^{tm1.1(KOMP)Mbp}/J
• Cell Lines: DEPD00542_3_B09

Data Sources

IMPC Data for Nr2f1

hearing/vestibular/ear

abnormal auditory brainstem response ( J:211773 )

IMPC - JAX

vision/eye

persistence of hyaloid vascular system ( J:211773 )

♀

IMPC - JAX

Genotype
MGI:6434270

ht5

• Allelic Composition: Nr2f1^tm1Mjts/Nr2f1⁺
• Genetic Background: involves: 129S7/SvEvBrd

behavior/neurological

behavior/neurological phenotype ( J:286647 )

N • mice exhibit normal behavior in the elevated plus maze, the light dark box test for anxiety, the marble burying assay, 3-chamber assay for sociability, on the accelerating rotarod mice exhibit and spatial working memory in the spontaneous alternation Y-maze test

slow extinction of fear memory ( J:286647 )

• in the contextual fear conditioning test, mice freeze for similar amounts of time as wild-type mice on day 1 of the test, indicating no impairment in contextual fear learning, however mice show altered memory extinction on day 2, spending more time freezing

impaired righting response ( J:286647 )

• P6 pups take more time to right themselves than wild-type pups in a surface-righting test

decreased startle reflex ( J:286647 )

• mice show decreased acoustic startle response

decreased grip strength ( J:286647 )

• females, but not males, show a small, but significant decrease in forelimb grip strength at 13 weeks of age

growth/size/body

decreased body weight ( J:286647 )

• P6 pups weigh less than wild-type pups

hearing/vestibular/ear

increased or absent threshold for auditory brainstem response ( J:286647 )

• 9-week-old mice show an auditory brainstem response (ABR) threshold increase at low frequency stimulation (4 and 8 kHz)

• 18-week-old mice show increased ABR thresholds at the stimulation frequency of 8 and 16 kHz

• however, no gross abnormalities in the organ of Corti at E18 and P2 are seen and there is no change in distortion product otoacoustic emission threshold

impaired hearing ( J:286647 )

• mice display hearing defects

muscle

hypotonia ( J:286647 )

• increase in righting time and decreased grip strength suggests neonatal hypotonia

nervous system

abnormal dorsal striatum morphology ( J:286647 )

• decrease in caudate putamen volume

• however, no differences are seen in neuronal cell density in the somatosensory cortex and striatum

decreased hippocampus volume ( J:286647 )

• mice exhibit a smaller hippocampal volume and increased volume in other brain regions such as neocortex and caudate putamen

increased neocortex volume ( J:286647 )

impaired synaptic plasticity ( J:286647 )

• mice exhibit impaired synaptic plasticity in the hippocampus

reduced long-term potentiation ( J:286647 )

• long-term potentiation is largely absent in the hippocampus

abnormal long-term depression ( J:286647 )

• long-term depression (LTD) is impaired; hippocampal slices fail to maintain the LTD induced by low-frequency stimulation

vision/eye

vision/eye phenotype ( J:286647 )

N • 8-week-old mice do not show decreased visual contrast sensitivity

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Bosch-Boonstra-Schaaf optic atrophy syndrome		DOID:0112226	OMIM:615722	J:286647

Genotype
MGI:4439073

cn6

• Allelic Composition: Nr2f1^tm2.1Mjts/Nr2f1⁺; Nr2f2^tm2.1Tsa/Nr2f2^tm2.1Tsa; Tg(rx3-icre)1Mjam/0
• Genetic Background: involves: 129S7/SvEvBrd

vision/eye

abnormal optic fissure closure ( J:157924 )

coloboma ( J:157924 )

• bilaterally open optic fissure at E14.5

Genotype
MGI:6197582

cx7

• Allelic Composition: Mctp1^dwnd/Nr2f1^{tm1.1(KOMP)Mbp}
• Genetic Background: involves: C57BL/6J * C57BL/6NJ * C57BL/10SnJ

hearing/vestibular/ear

abnormal cochlear hair cell morphology ( J:264553 )

• basal cochlea has disorganized hair cells and an excess of inner hair cells, and the apex has extra rows of outer hair cells

abnormal cochlear inner hair cell morphology ( J:264553 )

abnormal cochlear outer hair cell morphology ( J:264553 )

short scala media ( J:264553 )

abnormal utricular macula morphology ( J:264553 )

• the utricular macula is reduced from an ovate to a trapezoid shape

abnormal vestibular saccular macula morphology ( J:264553 )

• the saccular macula is often attached to the utricular macula and cochlear base

fused vestibular saccule and utricle ( J:264553 )

• the utricle and saccule fail to properly separate

increased or absent threshold for auditory brainstem response ( J:264553 )

• transheterozygotes have ABR thresholds 25-50 dB higher than controls at 1 month of age

impaired hearing ( J:264553 )

nervous system

abnormal cochlear hair cell morphology ( J:264553 )

• basal cochlea has disorganized hair cells and an excess of inner hair cells, and the apex has extra rows of outer hair cells

abnormal cochlear inner hair cell morphology ( J:264553 )

abnormal cochlear outer hair cell morphology ( J:264553 )