Phenotypes associated with this allele
cardiovascular system
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• superficial temporal artery is more branched than in controls
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• at E11.5, carotid artery (CA) overbranching is observed
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• vertebral artery (VA) caliber is increased relative to controls
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• number of smooth muscle actin-positive cells in CA is half that observed in controls
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• in the head, aneurysms are frequently observed
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• in the head, hemorrhages are frequently observed
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muscle
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• number of smooth muscle actin-positive cells in CA is half that observed in controls
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nervous system
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• in the head, hemorrhages are frequently observed
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mortality/aging
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• resorption observed at E10.5 and E11.5, incomplete penetrance
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embryo
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• small embryo size at E10.5-E11.5
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growth/size/body
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• small embryo size at E10.5-E11.5
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nervous system
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• small and abnormal brain
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• observed in some cases, encompassing the posterior mesencephalon and the rhombencephalon
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growth/size/body
embryo
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• expression analysis indicates that the dorsal progenitor pool 1 cells are not specified and that the proportion of dorsal progenitor 3 cells is increased at E10.5
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nervous system
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• expression analysis indicates that the dorsal progenitor pool 1 cells are not specified and that the proportion of dorsal progenitor 3 cells is increased at E10.5
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mortality/aging
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• animals die during first day following birth likely from denutrition, dehydration or hypothermia
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craniofacial
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• general tooth agenesis observed at autopsy
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skeleton
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• general tooth agenesis observed at autopsy
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digestive/alimentary system
hearing/vestibular/ear
behavior/neurological
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• newborns have no milk in their stomach, suggesting denutrition/dehydration might be cause of lethality
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growth/size/body
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• general tooth agenesis observed at autopsy
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mortality/aging
craniofacial
digestive/alimentary system
growth/size/body
mortality/aging
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• double homozygotes do not survive beyond E15
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limbs/digits/tail
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• maturation of the apical ectodermal ridge is impaired and regression is delayed; however initiation is normal
• at E10.2 and E11.5 the apical ectodermal ridge appears shorter and more diffuse
• at E12.5 the apical ectodermal ridge remains continuos along the entire apex of the limb and appears thicker than normal
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• limb bud size is reduced by about 1/3 at E10.5 to E11.5 even in somite-matched embryos
• the mesenchymal anterior domain of the limb bud is not maintained after E10.5 and all of the mesenchyme in the limb bud assumes a posterior identity
• in the anterior portion of the limb bud the normal dorsal ventral boundary is not established at E10.5
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• the posterior elements are present, the medium elements are severely truncated, and the anterior elements are absent
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• at E14.5 mutants only have 1 phalange while control embryos have 2
• the missing digit is always the anterior most one
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• 2 out of 18 mutant forelimbs had 6 digits
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• at E14.5 interdigital webbing is retained
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• the posterior elements are present, the medium elements are severely truncated, and the anterior elements are absent
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• at E14.5 the 3 segments of the limb are about 3/4 of the normal size
• general truncation of the anterior parts of the limbs with systematic loss of the anterior part of the zeugopod
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embryo
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• maturation of the apical ectodermal ridge is impaired and regression is delayed; however initiation is normal
• at E10.2 and E11.5 the apical ectodermal ridge appears shorter and more diffuse
• at E12.5 the apical ectodermal ridge remains continuos along the entire apex of the limb and appears thicker than normal
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• limb bud size is reduced by about 1/3 at E10.5 to E11.5 even in somite-matched embryos
• the mesenchymal anterior domain of the limb bud is not maintained after E10.5 and all of the mesenchyme in the limb bud assumes a posterior identity
• in the anterior portion of the limb bud the normal dorsal ventral boundary is not established at E10.5
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skeleton
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• the posterior elements are present, the medium elements are severely truncated, and the anterior elements are absent
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• the posterior elements are present, the medium elements are severely truncated, and the anterior elements are absent
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• at E14.5 the scapula is about 3/4 of the normal size
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• at E14.5 the pelvic girdle is about 3/4 of the normal size
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• mutants lack the pubis bone corresponding to the anterior part of the pelvis
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