Analysis Tools
mortality/aging
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• about 1/3 of homozygotes die within 1 week of birth
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embryo
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• the number of paraxial mesoderm cells is reduced
|
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• occasionally
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• neural tube defects including spina bifida occulta in the lumbo-sacral region `
|
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• somite anterior-posterior polarity is disturbed
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• at E11.5 somite segmentation is abnormal with progressive loss of clear borders in the rostral to caudal direction
• somite formation terminates around the 10th tail somite
• epithelialization of the somites is disrupted
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limbs/digits/tail
oligodactyly
(
J:93008
)
|
• some mutants lack the 5th digit on one or more limbs
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short tail
(
J:93008
)
curly tail
(
J:93008
)
|
• homozygotes have an extremely short, coiled tail
• tail malformations are less severe on a mixed BALB/c and C57BL/6 background compared to a pure BALB/c background
|
skeleton
rib fusion
(
J:93008
)
|
• the proximal portions of the ribs are frequently fused in the cervical and thoracic regions
|
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• the lumbo-sacral vertebrae are strongly malformed with lateral splits and occasional fusion between adjacent segments
|
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• the cervical and thoracic vertebrae show mild malformations consisting of malformed neural arches with fusion of the pedicles and laminae or absence of the pedicles
|
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• neural tube defects including spina bifida occulta in the lumbo-sacral region `
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osteoporosis
(
J:93008
)
|
• vertebrae appear more translucent with fewer trabecules, cortical bone thickness is reduced, evidence of multiple microfractures is found, and bone density is reduced
|
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• the appearance of ossification centers in the metatarsal and phalangeal bones is delayed in about 50% of mutants at P0
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nervous system
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• occasionally
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• neural tube defects including spina bifida occulta in the lumbo-sacral region `
|
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• segmental pattern is disrupted and fused dorsal root ganglia are seen
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growth/size/body
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• occasionally
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