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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Trim47em1(IMPC)Bay
endonuclease-mediated mutation 1, Baylor College of Medicine
MGI:6257581
Summary 2 genotypes


Genotype
MGI:7267121
hm1
Allelic
Composition
Trim47em1(IMPC)Bay/Trim47em1(IMPC)Bay
Genetic
Background
C57BL/6N-Trim47em1(IMPC)Bay/BayMmucd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Trim47em1(IMPC)Bay mutation (1 available); any Trim47 mutation (27 available)
Data Sources
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological




Genotype
MGI:8354337
hm2
Allelic
Composition
Trim47em1(IMPC)Bay/Trim47em1(IMPC)Bay
Genetic
Background
C57BL/6N-Trim47em1(IMPC)Bay/Mmmh
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Trim47em1(IMPC)Bay mutation (1 available); any Trim47 mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• adult mice show no locomotor deficits and have a swim speed comparable to that in controls; no signs of anhedonia or anxiety-like symptoms are noted in the sucrose preference test
• in the Morris water maze assay, adult mice are unable to learn the spatial location of the hidden platform
• feeding mice a tBHQ-supplemented diet reverses the cognitive deficit in the Morris water maze assay
• in the Morris water maze assay, adult mice fail to show a decrease in the latency (time) and distance swum to the hidden platform over 4 training days, unlike in control mice
• as training progresses, mice continue to use largely non-spatial (circling or random) hippocampal-independent swim strategies, whereas control mice switch toward a predominant spatial (direct) strategy
• when the platform is removed and probe trials are performed 72 h after the last training, mice show a higher proximity measure to the former platform location, with a trend towards increased latency to reach the platform area, reduced time spent in the platform area, and decreased number of platform crossings, indicating impaired search accuracy
• feeding mice a tBHQ-supplemented diet normalizes the performance in the Morris water maze assay
• in the Y-maze assay, adult mice fail to recognize the novel (previously inaccessible) arm during the test phase, indicating an inability to form short-term spatial recognition memory
• feeding mice a tBHQ-supplemented diet normalizes the performance in the Y-maze assay

nervous system
• quantification of cadaverine and dextran extravasation, expressed as the permeability index ratio, indicates a significant increase in blood-brain barrier (BBB) leakiness
• immunostaining of brain sections with fibrinogen and podocalyxin antibodies (to visualize blood vessels) indicates leakage of fibrinogen (a blood component) outside the vessels in various regions including the hippocampus and cortical regions
• increased BBB permeability is likely due to the reduced expression of specific tight/adherens junction components in brain endothelial cells (ECs); reduced antioxidant protection in ECs may further contribute to BBB dysfunction
• feeding mice a tBHQ-supplemented diet restores the expression of tight junction components in brain ECs to normal levels and prevents the increase in BBB permeability
• GFAP staining shows a marked increase in astrocyte activation specifically in the dentate gyrus and in cortical regions where blood vessel leakiness is detected
• no microglial activation or overt neuroinflammation is noted at 7-10 months of age under baseline conditions
• feeding mice a tBHQ-supplemented diet prevents astrocyte activation in the hippocampus (esp. in the dentate gyrus)
• immunofluorescence staining of adult brain sections indicates reduced protein levels of CLDN5 (claudin 5), a key component of tight junctions, in the hippocampus and cortical regions
• Glut1 immunostaining shows normal vascular density in the hippocampus and cortical regions
• no neuronal loss is detected in the hippocampus and cortical regions and no significant reduction in myelination is noted in the hippocampus region

cellular
• GFAP staining shows a marked increase in astrocyte activation specifically in the dentate gyrus and in cortical regions where blood vessel leakiness is detected
• no microglial activation or overt neuroinflammation is noted at 7-10 months of age under baseline conditions
• feeding mice a tBHQ-supplemented diet prevents astrocyte activation in the hippocampus (esp. in the dentate gyrus)
• whole brain lysates from P16 mice show decreased activation of the NRF2 protective antioxidant system both under baseline (normoxia) and pathological oxygen-induced retinopathy (OIR) conditions
• following exposure to the OIR model, a similar reduction in NRF2 pathway activation is observed in brain endothelial cells (ECs) isolated from P16 mice
• qPCR analysis confirms downregulation of NRF2 pathway activation both in whole brain lysates and in brain ECs isolated from adult mice
• immunostaining of brain tissues shows a significant reduction in downstream NRF2 target genes, such as HO-1 (heme oxygenase-1) expression in the vasculature
• feeding mice a diet containing the NRF2 pathway activator tBHQ (tert-butylhydroquinone) effectively prevents the impairment of the antioxidant pathway both in brain ECs and in whole brain tissue

cardiovascular system
• quantification of cadaverine and dextran extravasation, expressed as the permeability index ratio, indicates a significant increase in blood-brain barrier (BBB) leakiness
• immunostaining of brain sections with fibrinogen and podocalyxin antibodies (to visualize blood vessels) indicates leakage of fibrinogen (a blood component) outside the vessels in various regions including the hippocampus and cortical regions
• increased BBB permeability is likely due to the reduced expression of specific tight/adherens junction components in brain endothelial cells (ECs); reduced antioxidant protection in ECs may further contribute to BBB dysfunction
• feeding mice a tBHQ-supplemented diet restores the expression of tight junction components in brain ECs to normal levels and prevents the increase in BBB permeability

homeostasis/metabolism
• following exposure to an oxygen-induced retinopathy (OIR) model characterized by oxidative stress, P16 retinas show a significant increase in the % of avascular area relative to control retinas, suggesting loss of vasculoprotection during the hyperoxia-induced capillary vaso-obliteration phase
• however, retinas show no apparent defects in physiological angiogenesis at P6 or P12

growth/size/body
N
• mice are viable and develop normally showing no overt macroscopic phenotype or significant differences in adult body weight relative to control littermates

renal/urinary system
N
• quantification of cadaverine and dextran extravasation, expressed as the permeability index ratio, indicates normal glomerular filtration barrier function in the kidney





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last database update
06/16/2026
MGI 6.24
The Jackson Laboratory