Phenotypes associated with this allele

• Allele Symbol: Nr2f1⁺
• Allele Name: wild type
• Allele ID: MGI:2439789
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Nr2f1^tm1.1(KOMP)Mbp/Nr2f1^+	C57BL/6N-Nr2f1^tm1.1(KOMP)Mbp/J	MGI:6288608
ht2	Nr2f1^tm1Mjts/Nr2f1^+	involves: 129S7/SvEvBrd	MGI:6434270
cn3	Nr2f1^tm2.1Mjts/Nr2f1^+ Nr2f2^tm2.1Tsa/Nr2f2^tm2.1Tsa Tg(rx3-icre)1Mjam/0	involves: 129S7/SvEvBrd	MGI:4439073
cx4	Mctp1^dwnd/Nr2f1^tm1.1(KOMP)Mbp	involves: C57BL/6J * C57BL/6NJ * C57BL/10SnJ	MGI:6197582

Genotype
MGI:6288608

ht1

• 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

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

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

ht2

• 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

cn3

• 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

cx4

• 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 )