behavior/neurological
head tossing
(
J:75619
)
|
• described as head weaving
|
growth/size/body
|
• described as small in size
|
hearing/vestibular/ear
|
• incomplete penetrance, 91% of bones; pointed or bobble-shaped end of the incudomalleal articulatory area; also seen in control mice at lower incidence (56%)
|
|
• incomplete penetrance, 11% of bones; abnormal incudomalleal joint
|
|
• incomplete penetrance, 64% of bones; malformed stirrup and/or abnormal crura
|
|
• thin or skewed crura
|
|
• truncation of lateral canal with occasional absence of lateral ampulla
|
|
• variable penetrance of defects including small or absent canal and ampullae; variability often noted within left and right ears of same animal
|
|
• slight increase in CAP thresholds in mutant mice at various ages
• normal endocochlear potentials are seen
|
skeleton
|
• incomplete penetrance, 91% of bones; pointed or bobble-shaped end of the incudomalleal articulatory area; also seen in control mice at lower incidence (56%)
|
|
• incomplete penetrance, 11% of bones; abnormal incudomalleal joint
|
|
• incomplete penetrance, 64% of bones; malformed stirrup and/or abnormal crura
|
|
• thin or skewed crura
|
|
• defects involving the incudomalleal articulatory area varying from complete absence to a pointed or bobble-shaped end
|
nervous system
|
• slight increase in CAP thresholds in mutant mice at various ages
• normal endocochlear potentials are seen
|
craniofacial
|
• incomplete penetrance, 91% of bones; pointed or bobble-shaped end of the incudomalleal articulatory area; also seen in control mice at lower incidence (56%)
|
|
• incomplete penetrance, 11% of bones; abnormal incudomalleal joint
|
|
• incomplete penetrance, 64% of bones; malformed stirrup and/or abnormal crura
|
|
• thin or skewed crura
|


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