Analysis Tools
mortality/aging
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• homozygous null mice die within 48 hours after birth
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craniofacial
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• mutants show a fusion between the right alisphenoid and the inner ear
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• the basisphenoid bones display a cavity in the center
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• the basisphenoid bones are smaller
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• mutants show a fusion between the basisphenoid and the inner ear
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• mutants show a reduction in the size of the pterygoid bones
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embryo
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• the AER is 10-12% longer in mutant limbs than in wild-type limbs, and Fgf8 expression is concomitant with the extended ridge
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• consistent with the increase noted in ridge length, the mutant limb buds are broader than those of wild-type mice
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growth/size/body
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• homozygous null mice appear smaller in size relative to wild-type
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• the body weight of homozygous null mice is 85% of wild-type weight
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limbs/digits/tail
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• the AER is 10-12% longer in mutant limbs than in wild-type limbs, and Fgf8 expression is concomitant with the extended ridge
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• consistent with the increase noted in ridge length, the mutant limb buds are broader than those of wild-type mice
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• in homozygotes, the cuboideum digit is malformed
• the relative positions between the cuboideum, the navicular, and the cuneiform I, II, and III have changed to accommodate the presence of the extra digit on the anterior side of the limb
• in other cases, the cuneiform I is smaller than its duplicate and the metatarsals are fused at their proximal ends
• the phalanges of the additional anterior digit are slightly longer than those of the first normal digit
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polydactyly
(
J:30056
)
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• 82% of homozygotes display polydactyly in the hindlimbs
• 12% of homozygotes display polydactyly in the forelimbs
• the extra digit is a preaxial duplication, and has the morphology of digit II, III, IV or V
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renal/urinary system
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• at 14 dpc, dysgenic kidneys show no evidence of glomerulus formation in the cortical region (less than 3% of wild-type glomerular number)
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• at 14 dpc, dysgenic kidneys lack metanephric mesenchyme
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small kidney
(
J:30056
)
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• all homozygotes have small kidneys
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hydroureter
(
J:30056
)
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• all newborn null pups exhibit dysgenic kidneys with hydroureters
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skeleton
| N |
• homozygotes display no consistent abnormalities in the patterning of the axial skeleton
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• mutants show a fusion between the right alisphenoid and the inner ear
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• the basisphenoid bones display a cavity in the center
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• the basisphenoid bones are smaller
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• mutants show a fusion between the basisphenoid and the inner ear
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• mutants show a reduction in the size of the pterygoid bones
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• some mutants show misalignment of the ribs on the sternum
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• some mutants display malformation of the xiphoid process
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• some homozygotes display less than 7 pairs of attached ribs, and reduction of one or both of the most posterior pair of ribs
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rib fusion
(
J:30056
)
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• some homozygotes exhibit rib fusion
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vision/eye
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• at 11.0 dpc, the optic cups and lens vesicles have not formed unilaterally (21%) or bilaterally (14%)
• in the remaining mutant embryos (65%), optic cups are present and lens formation occurs normally; however, lens vesicles appear smaller relative to wild-type
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• in anophthalmic homozygotes, the lens, retina and cornea are absent; in other mutants, the lens, retina and cornea are well developed
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anophthalmia
(
J:30056
)
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• most homozygotes exhibit unilateral or bilateral eye defects: this phenotype occurs variably, ranging from a complete absence of eye structures to eyes of normal size
• 71% of homozygotes show anophthalmia and/or microphthalmia
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