Analysis Tools
adipose tissue
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• a significant increase in lean body mass is seen compared to controls
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behavior/neurological
head bobbing
(
J:132678
)
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• in some hemizygotes
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• in some hemizygotes
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craniofacial
small cranium
(
J:88352
)
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• at 12 weeks the skull is significantly shorter in length with a shorter nose length and lower areal bone mineral density compared to controls
• skull width and skull to nose length ratio are unaffected
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• the temporal bone surrounding the cochlea is thickened with areas of non-mineralization
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short maxilla
(
J:88352
)
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• the length of the upper jaw is reduced
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growth/size/body
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• all males have significantly lower body weights, ~25% less than controls
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• all males are mildly growth retarded in overall body size with a squared trunk
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hearing/vestibular/ear
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N |
• at 40 days of age the cells of the spiral ganglion and the organ of Corti remain intact
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• endolymph volume appears larger in the cochleas, resulting in increased scala media, decreased scala vestibule and displacement of Reissner's membrane which separates these
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• degeneration is obvious in the apical turn of the cochlea but decreases towards the base
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• a precipitate is found in the scala tympani of the cochlea
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• in some instances at 90 days of age the saccule is ruptured apparently due to hydrops
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• the otic bony capsule of hemizygotes is thickened and surrounded by non-mineralized bone at around 25 days of age
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• mean auditory brainstem response thresholds are significantly higher than controls
(J:88352)
• mean auditory brainstem response thresholds are also significantly higher than other Phex male mutants (PhexHyp, PhexHyp-2J, Gy)
(J:88352)
• this difference from other Phex mutants but not from wild-type controls disappeared when PhexHyp-Duk was outcrossed to BALB/cByJ
(J:88352)
(J:132678)
|
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• ABR assessment shows that at 21 days of age most hemizygotes have mild to moderate unilateral hearing loss, by 25 days of age the majority have bilateral hearing loss exceeding that of controls by 30 dB, and hearing loss is progressive with onset of inner ear dysfunction centered between 25 and 30 days of age
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• some hemizygotes show mild apical hydrops at 21 to 25 days of age, but this is not accompanied by hair cell loss and the endolymphatic duct appears normal along its entire course with no occlusion or dilation
• by 40 days of age most hemizygotes have severe endolymphatic hydrops with distension of Reissner's membrane
• by 90 days of age severe hydrops in all parts of the labyrinth is found and Reissner's membrane is displaced
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homeostasis/metabolism
|
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• at 6 weeks of age serum Ca2+ are significantly decreased compared to controls
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• at 6 weeks of age serum PO4 levels are significantly lower than controls
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limbs/digits/tail
|
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• shortened hind limbs are seen
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short femur
(
J:88352
)
|
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short fibula
(
J:88352
)
|
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• the fibula is shortened and splayed
|
short tibia
(
J:88352
)
|
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• the tibia is shortened and splayed
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• growth plates of the knee are thickened and irregular
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short tail
(
J:88352
)
|
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skeleton
small cranium
(
J:88352
)
|
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• at 12 weeks the skull is significantly shorter in length with a shorter nose length and lower areal bone mineral density compared to controls
• skull width and skull to nose length ratio are unaffected
|
|
|
• the temporal bone surrounding the cochlea is thickened with areas of non-mineralization
|
short maxilla
(
J:88352
)
|
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• the length of the upper jaw is reduced
|
|
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• growth plates of the knee are thickened and irregular
|
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• disorganized femoral growth plates
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• the long bones are shortened
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short femur
(
J:88352
)
|
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short fibula
(
J:88352
)
|
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• the fibula is shortened and splayed
|
short tibia
(
J:88352
)
|
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• the tibia is shortened and splayed
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• the long bones are thickened
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• between 6 and 40 weeks of age under-mineralized bone is present throughout the body
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nervous system
|
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• degeneration is obvious in the apical turn of the cochlea but decreases towards the base
(J:88352)
• at 90 days of age spiral ganglion degeneration in most turns of the cochlea is found, although the hair cells are largely preserved
(J:132678)
|
immune system
|
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• some hemizygotes show mild apical hydrops at 21 to 25 days of age, but this is not accompanied by hair cell loss and the endolymphatic duct appears normal along its entire course with no occlusion or dilation
• by 40 days of age most hemizygotes have severe endolymphatic hydrops with distension of Reissner's membrane
• by 90 days of age severe hydrops in all parts of the labyrinth is found and Reissner's membrane is displaced
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| otitis media | DOID:10754 | J:88352 | ||
| X-linked dominant hypophosphatemic rickets | DOID:0050445 |
OMIM:307800 |
J:88352 | |
