Analysis Tools
craniofacial
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• abnormalities are seen in 15% of mice
(J:143356)
• only males develop craniofacial abnormalities
(J:144356)
• Background Sensitivity: craniofacial abnormalities are more severe on a congenic 129S6/SvEvTac background compared to mice on BALB/c or CBA/Ca congenic backgrounds
(J:144356)
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• bones of the skull appear thinner
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• at E18.5 in some mice the size of the sagittal gap between the frontal and parietal bones is increased compared to controls
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• apparent increase in the overlap of frontal and parietal bones
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• frontal bone appears to be thinner
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• smaller and less ossified in some mice at E18.5
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• the occipital bones are smaller and less ossified in some mice at E18.5
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• parietal bone appears to be thinner
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malocclusion
(
J:144356
)
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• class III (lower teeth anterior in relation to upper teeth) malocclusion seen in most mice
• malocclusion impairs feeding
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• most mice show fusion of the zygomatic bone to the zygomatic process of the maxilla
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• reduced ossification of the palatal shelves is seen in some mice at E18.5
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• most mice show fusion of the zygomatic bone to the zygomatic process of the maxilla
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• most have a rounded skull
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• most mice have a shortened and often twisted snout
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short snout
(
J:144356
)
limbs/digits/tail
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• decreased compact bone thickness in the proximal femur
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hearing/vestibular/ear
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• at least 2 prospective Deiters' cells adopt a pillar cell fate
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• 4 outer hair cells are occasionally seen in apical cross sections
• longer stretches containing extra outer hair cells are found in the apical regions compared to wild-type controls
• extra outer hair cells are seen in discontinuous patches in the middle and apical domains
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• three outer hair cells are present but only a single Deiters' cell is seen in basal and mid-basal cochlear sections
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• four pillar cells are seen in basal and mid-basal cochlear sections
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• longer stretches containing extra outer hair cells are found in the apical regions compared to wild-type controls
• extra outer hair cells are seen in discontinuous patches in the middle and apical domains
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• increased ABR threshold at all test frequencies
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• hearing loss is less severe at 32 kHz than at lower frequencies
• hearing loss is more severe in homozygotes compared to heterozygotes
• Background Sensitivity: hearing loss is more severe in mice on a 129S6/SvEvTac congenic background compared to mice on a congenic CBA/Ca background
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skeleton
|
• bones of the skull appear thinner
|
|
• at E18.5 in some mice the size of the sagittal gap between the frontal and parietal bones is increased compared to controls
|
|
• apparent increase in the overlap of frontal and parietal bones
|
|
• frontal bone appears to be thinner
|
|
• smaller and less ossified in some mice at E18.5
|
|
• the occipital bones are smaller and less ossified in some mice at E18.5
|
|
• parietal bone appears to be thinner
|
malocclusion
(
J:144356
)
|
• class III (lower teeth anterior in relation to upper teeth) malocclusion seen in most mice
• malocclusion impairs feeding
|
|
• most mice show fusion of the zygomatic bone to the zygomatic process of the maxilla
|
|
• reduced ossification of the palatal shelves is seen in some mice at E18.5
|
|
• most mice show fusion of the zygomatic bone to the zygomatic process of the maxilla
|
|
• most have a rounded skull
|
|
• decreased compact bone thickness in the proximal femur
|
|
• decreased bone mineral density in the trabecular bone of the femur head
• mineral density reduction is intermediate between homozygous and wild-type mice
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• a delay in ossification of the occipital and interparietal bones and of the palatal shelves is seen at E18.5
• by P1 differences in maturation are less apparent
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growth/size/body
malocclusion
(
J:144356
)
|
• class III (lower teeth anterior in relation to upper teeth) malocclusion seen in most mice
• malocclusion impairs feeding
|
|
• reduced ossification of the palatal shelves is seen in some mice at E18.5
|
|
• most mice have a shortened and often twisted snout
|
short snout
(
J:144356
)
|
• mice with skull abnormalities tend to be smaller than their littermates
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digestive/alimentary system
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• reduced ossification of the palatal shelves is seen in some mice at E18.5
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nervous system
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• 4 outer hair cells are occasionally seen in apical cross sections
• longer stretches containing extra outer hair cells are found in the apical regions compared to wild-type controls
• extra outer hair cells are seen in discontinuous patches in the middle and apical domains
|
cellular
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• at least 2 prospective Deiters' cells adopt a pillar cell fate
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Muenke Syndrome | DOID:0060703 |
OMIM:602849 |
J:144356 | |
