Analysis Tools
vision/eye
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• absence of lens sutures at 6 weeks of age
• diffuse opacity on the lens optical axis is seen
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Allele Symbol Allele Name Allele ID |
Clic5jbg jitterbug MGI:3663254 |
| Summary |
3 genotypes |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• absence of lens sutures at 6 weeks of age
• diffuse opacity on the lens optical axis is seen
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• increase in proteinuria in mutant mice
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• increased vulnerability of mice to glomerular injury upon adriamycin treatment
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• significant expansion of the EC compartment and an increase in the total capillary lumen area
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• large vacuoles were observed in many glomerular EC bodies, but the structure of the fenestrated portion of the glomerular endothelium appears normal
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• at 3 days of age hair bundle orientation, patterning, and morphology appear nearly normal but by 15 days of age abnormal and missing stereocilia are commonly observed in hair cells throughout the cochlear duct and progressive degeneration of hair cells is found with diminished numbers in the crista ampullaris by 3 months of age and nearly absent by 12 months of age
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• outer hair cells degenerate before innner hair cells
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• outer hair cells degenerate before innner hair cells
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• severe degeneration by 12 months of age
• Reissner's membrane and stria vascularis remain intact despite degeneration in the inner ear
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• progressive degeneration of vestibular hair cells
• in the crista ampullaris, vestibular hair cells are markedly reduced in number at 3 months and nearly absent at 12 months of age
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• at 1 to 5 months of age homozygotes have an ABR threshold of 40-50 dB above wildtype controls
• by 7 months of age, mutants show no evoked response to the highest auditory stimuli presented
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• homozygotes fail to orient in water
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• increase in proteinuria in mutant mice
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• podocyte cell bodies have a smoother cell surface than control podocytes, which have microvilli-like structures extension on their cell surfaces
(J:184254)
• many foot processes were observed to be shorter in length in mutant versus control podocytes; measurements of these processes revealed a significant reduction in longitudinal length by more than 50% in mutant mice compared with conrols
(J:184254)
• foot processes have significant disorganization, but not complete effacement
(J:184254)
• reduced number of foot processes per linear unit of the glomerular basement membrane
(J:243805)
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• significant expansion of the EC compartment and an increase in the total capillary lumen area
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• large vacuoles were observed in many glomerular EC bodies, but the structure of the fenestrated portion of the glomerular endothelium appears normal
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• increased vulnerability of mice to glomerular injury upon adriamycin treatment
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• at 3 days of age hair bundle orientation, patterning, and morphology appear nearly normal but by 15 days of age abnormal and missing stereocilia are commonly observed in hair cells throughout the cochlear duct and progressive degeneration of hair cells is found with diminished numbers in the crista ampullaris by 3 months of age and nearly absent by 12 months of age
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• outer hair cells degenerate before innner hair cells
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• outer hair cells degenerate before innner hair cells
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• progressive degeneration of vestibular hair cells
• in the crista ampullaris, vestibular hair cells are markedly reduced in number at 3 months and nearly absent at 12 months of age
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• density of spiral ganglion cells is diminished in the cochlea by 12 months of age
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• progressive enlargement of alveolar air spaces
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• on a high fat diet, mutant mice do not accumulate lipid in the liver
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• mice enter torpor more quickly than controls during fasting
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• incomplete penetrance, observed in more than half of the homozygous mutants
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• mutant mice rapidly lose body weight under fasting conditions
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• observable by weaning age and older
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• RQ is elevated during the dark cycle of the day
• RQ is similar to controls during the light cycle of the day
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• incomplete penetrance, observed in more than half of the homozygous mutants
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• after overnight fasting, histamine-stimulated acid secretion is reduced
• however, no significant histological or ultrastructural abnormalities were found in any sections of the stomach
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/23/2024 MGI 6.23 |
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