Analysis Tools
skeleton
rib fusion
(
J:8119
)
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• fusions of ribs that are usually located in the lower half of the thoracic basket and are often asymmetric
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• abnormal mesenchymal condensation in the anlage of the vertebral column
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• thoracic vertebrae are irregular
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• condensations of primitive intervertebral discs often appear distorted at E12
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• left arch of atlas is sometimes bifurcated or enlarged
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• fusions of the anterior arch of the Atlas with the Axis is common
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• lumbar vertebrae are irregular
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• mutants exhibit irregularities and fusions of the neural arches and transverse processes, probably resulting from irregularities in somite formation
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• the vertebral bodies, especially in the lower thoracic and the lumbar region, are irregularly arranged
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• thoracic/lumbar articular processes are often fused
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• mutants exhibit irregularities and fusions of the transverse processes
• the transverse processes of cervical vertebrae are sometimes irregularly spaced
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• some thoracic/lumbar vertebral bodies are enlarged
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• fusion of cervical vertebral bodies
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• some thoracic/lumbar vertebral bodies are enlarged
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embryo
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• exhibit duplication of the caudal neural tube without duplications of the notochord
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• segments of notochord are irregularly spaced in the thoracic/lumbar region at E13
• the notochord shows a massive pycnosis at the tail tip only
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• somites at E13 appear to be unevenly distributed at the tail tip
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fused somites
(
J:8119
)
|
• near the tail tip, somites are often fused
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growth/size/body
kidney cyst
(
J:8119
)
limbs/digits/tail
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• the tail tip is enlarged and buds/sprouts off with several branches as early as E11; buds arising at the tail tip are filled with mesenchyme
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short tail
(
J:8119
)
|
• tail is shortened at E12 and may be irregularly bifurcated
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kinked tail
(
J:8119
)
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• varying severity of kinked tail
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nervous system
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• exhibit duplication of the caudal neural tube without duplications of the notochord
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digestive/alimentary system
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• in rare cases, the hindgut is doubled, however the accessory gut does not penetrate the accessory mesenchyme of the sprouting tail
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renal/urinary system
kidney cyst
(
J:8119
)
single kidney
(
J:8119
)
|
• occasional unilateral absence of kidneys
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reproductive system
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• females are poor breeders
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| spondylocostal dysostosis | DOID:0050568 |
OMIM:PS277300 |
J:8119 | |
