Analysis Tools
mortality/aging
premature death
(
J:294
)
|
• 28% of homozygotes that survive the pre-weaning period die by 50 days of age
• an additional 3% die by 100 days of age
• only 9.5% survive over 100 days, with the oldest homozygote surviving to 297 days whereas its wild-type sib survived to 599 days
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• many homozygotes die within 2 days after birth
• at birth, the sex ratio is significantly skewed, roughly 2 females: 3 males, suggesting that pre-natal survival of female homozygotes is reduced
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• 59% of homozygotes die before 14 days of age
• many of these are lost by starvation due to inter-litter competition for milk
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growth/size/body
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• at birth and thereafter, homozygotes are slightly lighter in weight than wild-type littermates
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• homozygotes display a reduced growth rate
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limbs/digits/tail
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• soft fleshy pads of tissue are noted on the weight-bearing areas of both fore- and hindlimbs
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• homozygotes show a significant increase in the incidence and extent of carpal bone fusions relative to control mice
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• homozygotes display flaccid digits, even in the absence of clubfoot
• digits are splayed apart or held together depending on the position and movement of the animal
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• homozygotes show a significant increase in the incidence and extent of tarsal bone fusions relative to control mice
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• homozygotes display congenital dorsiflexed (simple calcaneun type) bilateral clubbing of the hindfeet
• unilateral and bilateral clubbing of the forefeet is frequently observed
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• homozygotes exhibit frequent unilateral and bilateral clubbing of the forefeet
• forelimbs appear abnormal even in the absence of clubfoot, as digits display the same flaccidity observed in clubbed feet
• in addition, 8 of 157 homozygotes display variable dorsiflexion and eversion of the lower forelimbs both uni- and bilaterally
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• homozygotes exhibit congenital bilateral clubbing of the hindfeet
• the hindlimbs are abnormally positioned, and the skin is frequently rubbed off on the weight-bearing region of the heel
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curly tail
(
J:294
)
|
• most homozygotes loop their tails forward over their back while walking
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skeleton
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• homozygotes show a significant increase in the incidence and extent of carpal bone fusions relative to control mice
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• homozygotes show a significant increase in the incidence and extent of tarsal bone fusions relative to control mice
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muscle
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• homozygotes show a marked reduction of muscular tissues in the lower limbs, such that separation of individual muscles is almost unfeasible
• however, muscles controlling palmar flexion are present, and muscles of the upper limbs appear normal
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behavior/neurological
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• when suspended by the tail, homozygotes are unable to grip a slender supporting object with their digits
• loss of tenacity is, to some extent, compensated by the use of pincer movements of the limbs
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• homozygotes show an atypical position of the limbs and are unable to plantar flex their hindfeet
• when homozygotes are held firmly, clubbed feet can be moved manually to the normal position; when released, the feet return to their original position
• when clubbed hindfeet are forcibly plantar flexed, the skin on the dorsum of the foot is thrown up in longitudinal ridges; not observed in clubbed forefeet
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reproductive system
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• the fertility of both sexes is lower than normal
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vision/eye
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• eyes are often blocked by a viscous discharge
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• eyelids are often gummed together by a viscous ocular discharge
• the area between the eyelids is often reduced
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• the eyelids are occasionally denuded of hair
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integument
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• the eyelids are occasionally denuded of hair
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| clubfoot | DOID:11836 |
OMIM:119800 |
J:294 | |
