Phenotypes Associated with This Genotype

Genotype
MGI:6434270

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

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

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