Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1bor mutation
(2 available);
any
Eya1 mutation
(54 available)
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mortality/aging
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• reduced litter size suggests perinatal lethality occurs probably relating to bilateral kidney agenesis or severe hypoplasia
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behavior/neurological
hearing/vestibular/ear
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• the organ of Corti is absent however the pharyngeal pouches are normal
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• only the basal quarter turn of the cochlea is seen in adults
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• the common crus which is formed where the superior and posterior semicircular canals meet is incomplete
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• the lateral semicircular canal is foreshortened with a smaller diameter compared to wild-type mice
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• homozygotes show no response to sound pressures less than 95 dB at 3-4 weeks of age
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homeostasis/metabolism
renal/urinary system
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• unilateral or bilateral kidney hypoplasia is more commonly seen (compared to agenesis) with the left kidney more affected than the right
• within the hypoplastic kidneys normal cellular morphology is seen
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• unilateral kidney agenesis is sometimes seen
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reproductive system
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• females do not breed, however homozygous males will sometimes breed
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Allelic
Composition |
Eya1bor/Eya1bor
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Genetic
Background |
involves: C3HeB/FeJ |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1bor mutation
(2 available);
any
Eya1 mutation
(54 available)
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hearing/vestibular/ear
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• there are slightly increased numbers of inner hair cells in the middle region of E18.5 embryos (15.2 vs. 13.5 in wild-type)
• in the apex region, cochleae have many extra hair cells
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• there is a significant increase in the number of outer hair cells compared to controls
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• adult mice exhibit short and disorganized stereocilia bundles that have a loss of polarity
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• some of the outer hair cell bundles are missing in the middle and apical regions
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• all mice have shortened cochlear
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• there is a significant reduction in the number of hair cells found in the sacculle of mice (875 vs. 1705 in wild-type)
• there is a similar reduction in the number of hair cells found in the utricle
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• all mice at E18.5 have truncated posterior semicircular canals
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• all mice at E18.5 have abnormal ampulla, either truncated or absent
• 13 of 20 mice have at least one ear with an absent anterior ampulla
• all mice have an absent ampulla in the posterior section
• all mice have a malformed ampulla in the lateral section
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• 13 of 20 mice at E18.5 have truncated anterior semicircular canals
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• all mice have severely affected utricle
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• all mice at E18.5 have malformed saccule
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• 16 mice of 20 mice at E18.5 have a truncated endolymphatic duct
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nervous system
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• there are slightly increased numbers of inner hair cells in the middle region of E18.5 embryos (15.2 vs. 13.5 in wild-type)
• in the apex region, cochleae have many extra hair cells
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• there is a significant increase in the number of outer hair cells compared to controls
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• adult mice exhibit short and disorganized stereocilia bundles that have a loss of polarity
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• some of the outer hair cell bundles are missing in the middle and apical regions
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• there is a significant reduction in the number of hair cells found in the sacculle of mice (875 vs. 1705 in wild-type)
• there is a similar reduction in the number of hair cells found in the utricle
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Allelic
Composition |
Eya1bor/Eya1bor
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Genetic
Background |
involves: C3HeB/FeJ * C57BL/6J |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eya1bor mutation
(2 available);
any
Eya1 mutation
(54 available)
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behavior/neurological
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• Background Sensitivity: unlike a background containing the CAST/EI allele of Nxf1, mice exhibit head bobbing similar to Eya1bor homozygotes
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• Background Sensitivity: unlike a background containing the CAST/EI allele of Nxf1, mice exhibit circling similar to in Eya1bor homozygotes
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hearing/vestibular/ear
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• Background Sensitivity: unlike a background containing the CAST/EI allele of Nxf1, mice have only the basal turn and fewer spiral ganglion cells
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• Background Sensitivity: unlike a background containing the CAST/EI allele of Nxf1, the auditory brainstem threshold is increased compared to wild-type mice and Eya1bor Nxf1Mvb1-CAST/Ei homozygotes
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nervous system
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• Background Sensitivity: unlike a background containing the CAST/EI allele of Nxf1, fewer spiral ganglion cells are detected
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hearing/vestibular/ear
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• the cochlea of mice are all absent
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• one mouse had a total of 37 hair cells in the saccule while another had no visible hair cells
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• only one semicircular canal that appears to be the anterior canal is present
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• only one semicircular canal that appears to be the anterior canal is present
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• all mice have an absent ampulla in the anterior and posterior sections
• all mice have a malformed ampulla in the lateral section
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• all mice have severely affected utricle
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• in the three of ten E18.5 mice that have a saccule, the saccule is severely malformed
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• saccule are absent in 9 of 10 mice at E18.5
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• half the mice are missing at least one endolymphatic duct
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• half the mice are missing at least one endolymphatic duct
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nervous system
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• one mouse had a total of 37 hair cells in the saccule while another had no visible hair cells
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hearing/vestibular/ear
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• the auditory brainstem threshold is increased compared to wild-type mice but intermediate between Eya1bor Nxf1Mvb1-C57BL/6J and Eya1bor Nxf1Mvb1-CAST/Ei homozygotes
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behavior/neurological
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• mice exhibit less noticeable head bobbing compared to Eya1bor Nxf1Mvb1-C57BL/6J homozygotes
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• mice exhibit less noticeable circling compared to Eya1bor Nxf1Mvb1-C57BL/6J homozygotes
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hearing/vestibular/ear
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• the auditory brainstem threshold is increased compared to wild-type mice but less than that of Eya1bor Nxf1Mvb1-C57BL/6J homozygotes
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nervous system
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• 6 of 12 mice have a loss of spiral ganglion cells in the apical turn of the cochlea
• 3 of 12 mice have more severe phenotypes
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renal/urinary system
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N |
• mice do not exhibit kidney defects or associated mortality as in Eya1bor homozygotes
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Analysis Tools