Analysis Tools
mortality/aging
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• embryos are grossly retarded and malformed by E8.5-9.5 and die at later stages (E11.5 and 13.5); no embryos are recovered at time of delivery
• Background Sensitivity: following breeding onto an ICR background, no newborns are obtained at N5 but embryos show better developmental progress and can be recovered at later stages
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• homozygous embryos are recovered at E7.5 (15% versus expected 25%, n=88) but embryonic growth is stalled by E8.5
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embryo
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• at E9.5 and E11.5, embryos fail to establish a vascular network in the yolk sac
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• at E8.5, TUNEL-positive cells accumulate in the embryonic portion
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• at E9.5, TUNEL-positive cells accumulate at the tail region, unlike in control embryos
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• embryos show pleiotropic defects
• however, gastrulation occurs with anterior-posterior specification
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• embryos do not initiate embryonic turning
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• left-right axis specification is disrupted likely due to a malfunction of nodal cilia
(J:278736)
• at E8.5 and E9.5, Pitx2 (normally expressed in the left lateral plate mesoderm) is mis-expressed in the right lateral plate mesoderm in 25% of embryos
(J:278736)
• at E9.5, Hand1 (normally expressed at the outer curvature of the left ventricle) is mis-expressed on the opposite side in all embryos
(J:278736)
• however, Shh is normally expressed in the notochord at E8.5 and E9.5
(J:278736)
• left-right patterning defects are observed
(J:279207)
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• at E9.5, the posterior axis is shortened due to cells undergoing apoptosis at the posterior end
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• embryos fail to progress beyond E9.5 (early organogenesis)
(J:278736)
• embryonic growth is stalled by E8.5
(J:279207)
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• embryos show a significant developmental delay as early as gastrulation stages E6.5-7.5 and are grossly retarded by E8.5-9.5
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• embryos are smaller than controls at E7.5
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• most embryos exhibit abnormal neural tube closure, esp. at E9.5
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• although a visible node cannot be observed at E7.5, a morphological distinct node appears at ~E8.5 but is small in size and less defined relative to that in control embryos
• however, formation and extension of the primitive streak is normal at ~E6.5
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• although Arl13b/T (brachyury) double-positive cells indicating cilia are present at E8.5, the node contains significantly fewer Arl13b-positive cells, consistent with decreased node size
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• at E11.5, the tail bud region exhibits an abnormal cavity
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growth/size/body
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• embryos show a significant developmental delay as early as gastrulation stages E6.5-7.5 and are grossly retarded by E8.5-9.5
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• embryos are smaller than controls at E7.5
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cardiovascular system
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• at E9.5 and E11.5, embryos fail to establish a vascular network in the yolk sac
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• at E9.5, heart looping is reversed
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• at E11.5
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nervous system
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• at E9.5, TUNEL-positive cells accumulate at the neural tube, unlike in control embryos
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• most embryos exhibit abnormal neural tube closure, esp. at E9.5
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limbs/digits/tail
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• at E11.5, the tail bud region exhibits an abnormal cavity
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homeostasis/metabolism
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• at E11.5
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cellular
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• although Arl13b/T (brachyury) double-positive cells indicating cilia are present at E8.5, the node contains significantly fewer Arl13b-positive cells, consistent with decreased node size
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• at E8.5, TUNEL-positive cells accumulate in the embryonic portion
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• at E9.5, TUNEL-positive cells accumulate at the tail region, unlike in control embryos
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• at E9.5, TUNEL-positive cells accumulate at the neural tube, unlike in control embryos
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| primary ciliary dyskinesia 10 | DOID:0110612 |
OMIM:612518 |
J:278736 | |
