Analysis Tools
craniofacial
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• severe craniofacial phenotype is seen in association with translucent skin phenotype
• prominence of the frontal region in 34 of 42 embryos
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• absence of calvarial bony elements
• numerous skeletal abnormalities in the neurocranium and viscerocranium
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• slightly elongated
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• enlarged and associated with a poorly directed paraoccipital process
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• absence of the endochondral supraoccipital bone
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• absence of the intramembranous interparietal and parietal bones
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• hypoplastic and lacks a substantial retrotympanic and capsular processes
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• numerous skeletal abnormalities in the neurocranium and viscerocranium
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• absence of the much of the caudal frontal bone
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• lack of bone in at the distal midline in the dentary
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• absence of proliferation in the tooth germ
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• arrests at the bud stage
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malocclusion
(
J:150375
)
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• in 34 of 42 embryos
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• small with a backward rotation of the body contributing to the marked anterior open bite
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• broader
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• diminutive
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• broader
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• ectopic dermal bone located lateral to the mandibular condyles
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• markedly hypoplastic
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• elongated and articulated with an ectopic cartilage
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• shelves elevate and overlap but fail to fuse
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• hypoplasia and dysmorphology of the upper lip
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• abnormal development of the surface rugae
• the inter-molar rugae are poorly organized and smaller
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• absence of the ante-molar rugae
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cleft palate
(
J:150375
)
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• in 34 of 42 embryos
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• bilateral cleft in the midline
• however, the primary palate is intact
• cleft region is narrow and associated with close approximation of the palatal shelves
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vision/eye
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• in 34 of 42 embryos
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embryo
spina bifida
(
J:150375
)
integument
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• some mice display a complete loss of tissue renewal in the epidermis with taut, shiny, translucent skin
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• marked progenitor-cell hyperplasia with wrinkled, blistered skin in some mice
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shiny skin
(
J:150375
)
|
• in some mice
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tight skin
(
J:150375
)
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• in some mice
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• in some mice
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• multiple basal cell carcinoma-like proliferations in the skin
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neoplasm
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• multiple basal cell carcinoma-like proliferations in the skin
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limbs/digits/tail
syndactyly
(
J:150375
)
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• ectopic cartilagenous and bony ossifications between the digits and soft tissue syndactyly
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• affecting both fore and hindlimbs
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short limbs
(
J:150375
)
|
• proximal-distal truncation of fore and hindlimbs
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kinked tail
(
J:150375
)
skeleton
|
• absence of calvarial bony elements
• numerous skeletal abnormalities in the neurocranium and viscerocranium
|
|
• slightly elongated
|
|
• enlarged and associated with a poorly directed paraoccipital process
|
|
• absence of the endochondral supraoccipital bone
|
|
• absence of the intramembranous interparietal and parietal bones
|
|
• hypoplastic and lacks a substantial retrotympanic and capsular processes
|
|
• numerous skeletal abnormalities in the neurocranium and viscerocranium
|
|
• absence of the much of the caudal frontal bone
|
|
• lack of bone in at the distal midline in the dentary
|
|
• absence of proliferation in the tooth germ
|
|
• arrests at the bud stage
|
malocclusion
(
J:150375
)
|
• in 34 of 42 embryos
|
|
• small with a backward rotation of the body contributing to the marked anterior open bite
|
|
• broader
|
|
• diminutive
|
|
• broader
|
|
• ectopic dermal bone located lateral to the mandibular condyles
|
|
• markedly hypoplastic
|
|
• elongated and articulated with an ectopic cartilage
|
|
• absence of vertebral spinal processes
|
nervous system
spina bifida
(
J:150375
)
growth/size/body
|
• absence of proliferation in the tooth germ
|
|
• arrests at the bud stage
|
malocclusion
(
J:150375
)
|
• in 34 of 42 embryos
|
|
• diminutive
|
|
• shelves elevate and overlap but fail to fuse
|
|
• hypoplasia and dysmorphology of the upper lip
|
|
• abnormal development of the surface rugae
• the inter-molar rugae are poorly organized and smaller
|
|
• absence of the ante-molar rugae
|
cleft palate
(
J:150375
)
|
• in 34 of 42 embryos
|
|
• bilateral cleft in the midline
• however, the primary palate is intact
• cleft region is narrow and associated with close approximation of the palatal shelves
|
hearing/vestibular/ear
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• markedly hypoplastic
|
|
• elongated and articulated with an ectopic cartilage
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• broader in both the pars canalicularis and pars cochlearis
• ectopic cartilages are seen
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• ectotympanic ring is markedly hypoplastic and typically bent
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digestive/alimentary system
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• diminutive
|
|
• shelves elevate and overlap but fail to fuse
|
|
• abnormal development of the surface rugae
• the inter-molar rugae are poorly organized and smaller
|
|
• absence of the ante-molar rugae
|
cleft palate
(
J:150375
)
|
• in 34 of 42 embryos
|
|
• bilateral cleft in the midline
• however, the primary palate is intact
• cleft region is narrow and associated with close approximation of the palatal shelves
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| nevoid basal cell carcinoma syndrome | DOID:2512 |
OMIM:PS109400 |
J:150375 | |
