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Fig. 3. Range of tadpole craniofacial phenotypes caused by injection of xduct-noTM4 at the 1-, 2-, or 4-cell stage. Tadpoles were scored and imaged between stage 45 and 48. In all images, large red arrowheads indicate abnormalities of jaws and branchial arches, large blue arrowheads indicate eye or pigment abnormalities, small yellow arrowheads indicate olfactory pit abnormalities, small orange arrowheads indicate otocyst and/ or otolith abnormalities, and small white arrowheads indicate abnormal brain tissue. All views are dorsal except where indicated by a V (ventral) or a P (profile). Anterior is up except in K and R in which anterior is left and dorsal is up. All scale bars 1 mm unless otherwise indicated. A: Wildtype morphology, dorsal and ventral aspects; drawing summarizes major structures. Scale bar 500 mm. B: Ventral and dorsal views of a tadpole with badly malformed jaw and left branchial arches (red) as well as a malformed otolith (B.ii, orange). C: Ventral view of a tadpole with small left-sided branchial arches (red). D: Ventral and dorsal views of a tadpole with left-sided abnormalities of the jaw, branchial arches (red), eye (blue), and olfactory pit (yellow). E: Ventral view of malformed left-sided branchial arches (red). F: Ventral view of bilateral abnormalities of the jaws and branchial arches, which lack the normal teeth (red). The left eye of this tadpole is not visible and thus abnormal (blue). G: Bilateral abnormalities of the jaw (red), eyes (blue), and otoliths (orange); the branchial arches are also small. H: Pigmentation of the optic nerve (blue), a commonly seen abnormality. I: Thickening and pigmentation of the connection between the eye and brain (blue) is also commonly observed. This tadpole also has a malformed or missing olfactory pit (yellow) and abnormal growth of the brain (white). J: Unilateral changes to the olfactory pit (yellow), eye (blue), and branchial arches (red). In this tadpole, the eye appears to be directly attached to the brain. K: Eye with two lenses; it is not clear which lens is ectopic (blue). Scale bar 250 mm. L: Embryo with a small eye (blue) and missing otocyst/otolith (orange). M: Tadpole with ectopic pigment near to the eye (blue), extra brain tissue (white), and missing otocyst/otolith (orange). N: Tadpole with malformed eyes and ectopic pigment along the midline (blue), as well as brain shape abnormalities (white). O: Tadpole with an ectopic eye, connected to the original by a pigmented bridge (blue) that is fused with the olfactory pit (yellow). P: Tadpole with left-sided abnormalities including small branchial arches (red), and a second brain (white) apparently fused to a large distorted eye (blue) and olfactory pit (yellow). Q: Tadpole with small outgrowth of brain (white), a misformed otocyst (orange), and a missing otolith on the left side. R: Ectopic otoliths growing along the dorsal midline. Scale bar 500 mm. S: This froglet received xduct-noTM4 at the one-cell stage, developed into a tadpole with a malformed eye, then metamorphosed. The eye abnormality is still visible (blue).

Image published in: Vandenberg LN et al. (2011)

Copyright © 2011. Image reproduced with permission of the Publisher, John Wiley & Sons.

Experiment + Assay Source Phenotypes and Disease
Xla Wt + atp6v0cdel + NF45-48 (whole-mount microscopy) Fig 3 Bi ii
Anatomical Phenotype
abnormal branchial arch skeleton morphology
abnormal inner ear morphology
abnormal Meckel's cartilage morphology
Xla Wt + atp6v0cdel + NF45-48 (whole-mount microscopy) Fig 3 C
Anatomical Phenotype
decreased size of the branchial arch skeleton
Xla Wt + atp6v0cdel + NF45-48 (whole-mount microscopy) Fig 3 Di ii
Anatomical Phenotype
abnormal branchial arch skeleton morphology
abnormal eye morphology
abnormal Meckel's cartilage morphology
abnormal olfactory pit morphology
Xla Wt + atp6v0cdel + NF45-48 (whole-mount microscopy) Fig 3 E
Anatomical Phenotype
abnormal branchial arch skeleton morphology
Xla Wt + atp6v0cdel + NF45-48 (whole-mount microscopy) Fig 3 F
Anatomical Phenotype
abnormal branchial arch skeleton morphology
abnormal Meckel's cartilage morphology
abnormal tooth morphology
absent eye
Xla Wt + atp6v0cdel + NF45-48 (whole-mount microscopy) Fig 3 G
Anatomical Phenotype
abnormal eye morphology
abnormal inner ear morphology
abnormal Meckel's cartilage morphology
abnormal optic nerve morphology
decreased size of the pharyngeal arch
increased pigmentation in the optic nerve
Xla Wt + atp6v0cdel + NF45-48 (whole-mount microscopy) Fig 3 H
Anatomical Phenotype
increased pigmentation in the optic nerve
Xla Wt + atp6v0cdel + NF45-48 (whole-mount microscopy) Fig 3 I
Anatomical Phenotype
abnormal brain morphology
absent olfactory pit
increased pigmentation in the optic nerve
increased thickness of the optic nerve
Xla Wt + atp6v0cdel + NF45-48 (whole-mount microscopy) Fig 3 J
Anatomical Phenotype
abnormal branchial arch skeleton morphology
abnormal eye morphology
abnormal olfactory pit morphology
absent optic stalk
Xla Wt + atp6v0cdel + NF45-48 (whole-mount microscopy) Fig 3 K
Anatomical Phenotype
abnormal lens morphology
duplicated lens
Xla Wt + atp6v0cdel + NF45-48 (whole-mount microscopy) Fig 3 L
Anatomical Phenotype
absent inner ear
decreased size of the eye
Xla Wt + atp6v0cdel + NF45-48 (whole-mount microscopy) Fig 3 M
Anatomical Phenotype
abnormal periocular region morphology
abnormally increased volume of brain
absent inner ear
Xla Wt + atp6v0cdel + NF45-48 (whole-mount microscopy) Fig 3 N
Anatomical Phenotype
abnormal brain morphology
abnormal eye morphology
decreased size of the eye
increased pigmentation in the head
Xla Wt + atp6v0cdel + NF45-48 (whole-mount microscopy) Fig 3 O
Anatomical Phenotype
abnormal eye morphology
duplicated eye
fused eyes
Xla Wt + atp6v0cdel + NF45-48 (whole-mount microscopy) Fig 3 P
Anatomical Phenotype
abnormal brain morphology
abnormal branchial arch skeleton morphology
abnormal eye morphology
decreased size of the branchial arch skeleton
duplicated head
fused eyes
increased size of the eye
Xla Wt + atp6v0cdel + NF45-48 (whole-mount microscopy) Fig 3 Q
Anatomical Phenotype
abnormal brain morphology
abnormal inner ear morphology
absent inner ear
Xla Wt + atp6v0cdel + NF45-48 (whole-mount microscopy) Fig 3 R
Anatomical Phenotype
abnormally localised inner ear
Xla Wt + atp6v0cdel + NF65 (whole-mount microscopy) Fig 3 R
Anatomical Phenotype
abnormal eye morphology

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