Analysis Tools
mortality/aging
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• no mice survive to weaning age
• all pups with cleft palate die within 2 hours of C-section
• pups with bilateral kidney agenesis are often stillborn or die within 2 hours of C-section
• pups that survive to P10 do not exhibit kidney agenesis or cleft palate
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growth/size/body
cleft palate
(
J:231083
)
|
• at E18.5, 30.8% of pups exhibit cleft palate
• pups that survive to P10 do not exhibit cleft palate
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• pups that survive to P10 are significantly smaller than controls
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• pups that survive to P10 appear to be developmentally delayed
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limbs/digits/tail
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• pups that survive to P10 often display limb deformation
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• both immunohistochemical staining for cleaved caspase 3 and vital dye labeling of apoptotic cells with Nile Blue showed decreased interdigital apoptosis (ICD) in the developing hindlimb buds at E13.5
• limb buds with reduced ICD are seen at a frequency consistent with the penetrance of hindlimb syndactyly at E18.5; also, the extent of ICD reduction correlates with the extent of blistering
• although expression of BMP ligands and their receptors is normal, Msx2 expression is decreased in the interdigital regions of hindlimb buds at E13.0, likely contributing to syndactyly
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• affected limbs show deformation of the digits, ranging from slight bends in the distal phalanges to complete inward curling of the phalanges and metacarpals
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• at E18.5, 10.3% of pups show preaxial polydactyly in the hindlimb
• however, all forelimbs are normal at E18.5
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syndactyly
(
J:231083
)
|
• at E18.5, 76.9% of pups show severe hindlimb soft tissue syndactyly
• no skeletal element fusion is observed
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• hindlimbs appear rounded
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short tail
(
J:231083
)
|
• at E18.5, 1 of 39 pups (2.6%) had a shortened tail with a blister on the distal tip
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• at E18.5, 1 of 39 pups (2.6%) had a shortened tail with a blister on the distal tip
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integument
blistering
(
J:231083
)
|
• at E18.5, hindlimb syndactyly is frequently accompanied by formation of a blood-filled blister on the dorsal and/or ventral sides of the autopod; however, blister formation does not affect AER-FGF-to-mesenchyme signaling in the hindlimb buds
• blisters are observed over the eyes
• 2.6% of pups exhibit a tail bister
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flaky skin
(
J:231083
)
|
• pups that survive to P10 often display skin flaking
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craniofacial
cleft palate
(
J:231083
)
|
• at E18.5, 30.8% of pups exhibit cleft palate
• pups that survive to P10 do not exhibit cleft palate
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vision/eye
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• pups that survive to P10 often display eye defects
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• at E18.5, 53.8% of pups exhibit open eyelids
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renal/urinary system
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• at E18.5, 28.2% of pups exhibit unilateral or bilateral kidney agenesis
• pups that survive to P10 do not exhibit kidney agenesis
|
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• at E18.5, 28.2% of pups exhibit unilateral or bilateral kidney agenesis
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cellular
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• both immunohistochemical staining for cleaved caspase 3 and vital dye labeling of apoptotic cells with Nile Blue showed decreased interdigital apoptosis (ICD) in the developing hindlimb buds at E13.5
• limb buds with reduced ICD are seen at a frequency consistent with the penetrance of hindlimb syndactyly at E18.5; also, the extent of ICD reduction correlates with the extent of blistering
• although expression of BMP ligands and their receptors is normal, Msx2 expression is decreased in the interdigital regions of hindlimb buds at E13.0, likely contributing to syndactyly
|
digestive/alimentary system
cleft palate
(
J:231083
)
|
• at E18.5, 30.8% of pups exhibit cleft palate
• pups that survive to P10 do not exhibit cleft palate
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Fraser syndrome | DOID:0090001 |
OMIM:PS219000 |
J:231083 | |
