Analysis Tools
behavior/neurological
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• mice exhibit a longer latency to fall from a rotating rod
• however, they show normal digigait test results, indicating that directional control, but not motor coordination, is impaired
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• mice startle less than wild-type littermates in response to mixed frequency noise
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• mice spend more time moving than controls during locomotor cell testing, indicating hyperactivity
• on average, mice run twice as quickly and travel twice as far as controls
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• mice exhibit circling behavior
• mice are inclined to circle within the center of the test arena compared to controls that prefer the edges
• during the swim test, mice swim in circles compared to controls that occasionally float motionless or seek refuge at the outskirts of the test arena
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craniofacial
otosclerosis
(
J:252089
)
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• stapes shows an ectopic bone bridge extending from the tubercle to the otic capsule
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• fusion of the stapedial footplate to the oval window of the cochlea
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• however, mid-modiolar cochlea sections are normal
• ossicles show a range of malformations
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• the incus shows malformation of the facet
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• the incus shows incomplete development of the long process
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• the incus shows incomplete development of the short process
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• the malleus manubrium protrudes at an abnormally acute angle while the neck is thickened and malformed
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• stapes is rounded and small with an ectopic bone bridge extending from the tubercle to the otic capsule
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• fusion of the stapedial footplate to the oval window of the cochlea
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eyelid edema
(
J:252089
)
growth/size/body
eyelid edema
(
J:252089
)
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• mice are 30% lighter than controls
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hearing/vestibular/ear
otosclerosis
(
J:252089
)
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• stapes shows an ectopic bone bridge extending from the tubercle to the otic capsule
|
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• fusion of the stapedial footplate to the oval window of the cochlea
|
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• ossicles show a range of malformations
• however, mid-modiolar cochlea sections are normal
|
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• the incus shows malformation of the facet
|
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• the incus shows incomplete development of the long process
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• the incus shows incomplete development of the short process
|
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• the malleus manubrium protrudes at an abnormally acute angle while the neck is thickened and malformed
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• stapes is rounded and small with an ectopic bone bridge extending from the tubercle to the otic capsule
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• fusion of the stapedial footplate to the oval window of the cochlea
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• incomplete development of the lateral semicircular canal
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• various degrees of hypoplasia of the posterior canal
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• various degrees of hypoplasia of the anterior canal
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• auditory brainstem response (ABR) thresholds are elevated between 4 and 32 kHz
• Background Sensitivity: the average click ABR threshold is higher on the BALB/c background than on a mixed C57BL/6 and BALB/c background
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• mice exhibit hearing loss
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homeostasis/metabolism
eyelid edema
(
J:252089
)
immune system
blepharitis
(
J:252089
)
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• 11 of 16 mice show eye irritation and blepharoconjunctivitis
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• 11 of 16 mice show eye irritation and blepharoconjunctivitis
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skeleton
otosclerosis
(
J:252089
)
|
• stapes shows an ectopic bone bridge extending from the tubercle to the otic capsule
|
|
• fusion of the stapedial footplate to the oval window of the cochlea
|
|
• ossicles show a range of malformations
• however, mid-modiolar cochlea sections are normal
|
|
• the incus shows malformation of the facet
|
|
• the incus shows incomplete development of the long process
|
|
• the incus shows incomplete development of the short process
|
|
• the malleus manubrium protrudes at an abnormally acute angle while the neck is thickened and malformed
|
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• stapes is rounded and small with an ectopic bone bridge extending from the tubercle to the otic capsule
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• fusion of the stapedial footplate to the oval window of the cochlea
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• incus shows deformed glenoid cavity
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vision/eye
eyelid edema
(
J:252089
)
blepharitis
(
J:252089
)
|
• 11 of 16 mice show eye irritation and blepharoconjunctivitis
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• 11 of 16 mice show eye irritation and blepharoconjunctivitis
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• mice exhibit variable, narrowed palpebral fissures and lid edema, often with one eye severely affected and one moderately affected or normal eye
• however, coloboma is not seen
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| CHARGE syndrome | DOID:0050834 |
OMIM:214800 |
J:252089 | |
