Analysis Tools
limbs/digits/tail
syndactyly
(
J:148459
)
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• the forelimbs are found to fuse with the flank skin and the himdlimbs are found to fuse with the tail epidermis
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• the limb bud is smaller than normal, does not flatten or form digits, and remains stumpy throughout development; the difference is detectable as early as embryonic day 13
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• the apical ectodermal ridge is hyperplastic and penetrates the underlying mesenchyme at embryonic day 13 when the epidermal layer is irregularly thickened
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• at embryonic day 13 the precartilaginous condensations of the distal footplate appear closer to each other than normal, on embryonic day 14 the footplate is severely deformed, being rounded with converging precartilaginous elements instead of flattened with radiating digit precartilages, and individualization of the digits does not occur
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• at embryonic day 13 the tail tip is bent toward the dorsal side, at embryonic day 14 there is a twisting or kinking of the distal part of the tail, and the tail is stumpy and joined to the hindlimbs from embryonic day 15 on
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short tail
(
J:148459
)
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• in all homozygotes
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kinked tail
(
J:148459
)
craniofacial
fused lips
(
J:148459
)
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• at embryonic day 15 the lips are fused
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vision/eye
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• evident at embryonic day 15
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• at embryonic day 15 the lower eyelid covers much more of the cornea than it does in wild-type controls, only a small central area remains where the two eyelids have not grown together, the leading edge is irregular, abnormal, flattened ectodermal cells cover the entire surface of the cornea, and no corneal epithelium is visible
• by embryonic day 19 the eyelids are grown together and the surface covering the eye is smooth, thin, shiny and translucent
• in newborns a continuous sheet of epithelial cells, which are abnormally flat, densely packed, lacking distinct cell boundaries, and disorganized in their arrangement, extends from the anterior corneal stroma to the surface of the eyelid and compresses the eyelid stroma into a thin wedge
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embryo
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• the limb bud is smaller than normal, does not flatten or form digits, and remains stumpy throughout development; the difference is detectable as early as embryonic day 13
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• the apical ectodermal ridge is hyperplastic and penetrates the underlying mesenchyme at embryonic day 13 when the epidermal layer is irregularly thickened
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integument
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• scarce hair follicles at the surface of the skin at embryonic day 18, but hair follicles are found irregularly distributed and localized deeper into the dermis than normal
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• at embryonic day 14 the flank epidermis is composed of several layers of flat cells and is approximately twice as thick as normal, while the dorsal and head skin remains thin
• at embryonic day 15 thickened epidermis extends to include the dorsal region and the hair nodules are delayed in appearance
• at embryonic day 16 the spinous layers are irregularly thickened and there are several layers of flattened cells above them
• while normal epidermis becomes wrinkled from embryonic day 17 onward, the epidermis of the homozygote remains smooth
• normal stratification of the epidermal layers is disturbed and on embyronic day 18 the basal layer has numerous lobes penetrating into the dermis, the hair follicles are irregularly spread between these lobes, the stratum spinosum is thickened with the superficial horny layers of the skin lacking or reduced, and the stratum granulosum is delayed in formation and varies in thickness
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growth/size/body
fused lips
(
J:148459
)
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• at embryonic day 15 the lips are fused
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