Analysis Tools
mortality/aging
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• while alive in the last few days of gestation, homozygotes do not survive birth
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hearing/vestibular/ear
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• at E15 all elements are present but appear somewhat flattened
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• at E8.5 the otic pit is ill-defined and somewhat misshapen
• at E9.0 the otic pit is poorly defined, tends to have a deeper slit-like portion, and the cell are flattened, less densely arranged and have microvilli that are disorganized and distorted
• at E9.5 the otic pit lacks the oval shape seen in control littermates, ventrally the border tends to be flattened and less defined, and the epidermal cells tend to be more irregular in shape with flattened surfaces
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• abnormalities are similar to those in Pax3Sp homozygotes but with increased severity
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• inner hair cells are misoriented compared to in wild-type mice
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• outer hair cells are misoriented compared to in wild-type mice
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• formation is partially or completely suppressed
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• grossly enlarged
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cardiovascular system
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• into the amniotic cavity in some embryos
(J:133114)
• at E12.5 a hemorrhagic area is present in the flap of metencephalon
(J:12992)
• hemorrhage in the flap of metencephalon is also seen in some (3 of 12) embryos at E10.5 - E11.5
(J:12992)
• in the last few days before birth the neural tracts are generally fractured across the lumbar region with considerable hemorrhage
(J:13059)
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embryo
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• abnormal concave flexure of the back suggests that embryos do not complete rotation at E14.5 - E19.5
• Background Sensitivity: in a study looking at 6 inbred lines, impairment of rotation appears to be more severe in one line (8) than in other lines (16, 44, 55,66, 71)
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• in later stages
(J:133114)
• markedly smaller at E14.5 - E19.5
(J:12992)
• reduction in size is not proportional in all parts of the body with the trunk seeming relatively short and the nervous system relatively large for the body
(J:12992)
• slightly smaller than wild-type or heterozygous littermates
(J:13059)
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• crooks in the back are frequently seen in embryos at E14.5 - E19.5
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• at E10.5 - E12.5, cell density in portions of the mantle layer of the hindbrain and cord appears to be reduced
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• extends from the midbrain to varying levels of the tail
(J:5550)
• at E14.5 - E19.5, neural tissue from the posterior border of the metencephalon back is a flat plate with a deep median groove
(J:12992)
• in some embryos flaps of more posterior tissue overlie the diencephalon and sometimes the cerebral hemispheres
(J:12992)
• at E10 the neural tissue fails to form a tube and is instead a herniated cranial mass with two broad tracts separated by a narrow groove down the back
(J:13059)
• in the last few days before birth the neural tracts are generally fractured across the lumbar region
(J:13059)
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• at E9.5 the notochord is shorter with an increase in the diameter and extent of the posterior thickened portion compared to control littermates
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• at E9 - E9.5, the primitive streak is thicker and longer compared to age-matched control littermates
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• at E9.5 posterior somites are often very small and/or irregular in shape
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• at E9.5 posterior somites are often very small and/or irregular in shape
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fused somites
(
J:12147
)
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• at E10 - 11, apparent fusion of some somites is seen associated with torsion of the body
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• at E19 - E20, average cord length is decreased compared to wild-type and heterozygous littermates
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skeleton
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• at E13 - 14, the separation between the right and left sternal rudiements is increased and the rudiments are less dense compared to control littermates
• at E16 the omosterna is less well developed
• in newborns the sternum is a single solid asymmetrical bone with variable numbers of lateral extensions and without normal segmentation
• lateral extensions are usually tipped with cartilage and extend towards the tips of the ribs
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• absence of sternebra formation at E16
• at E17 only rarely is any separation into sternebrae detected
• in some newborns cases partial segmentation of the sternum is seen but the sternebrae are abnormal in size, shape and number
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• at E13 - 14, ribs fail to contact or just barely contact the mesenchymal sternal bands compared to controls where the ribs appear to be embedded in the sternal bands
• at E16 connection between the ribs and sternal cartilages is absent instead distorted sternal rudiments extend towards the ribs
• at E17 the rib tips are more widely separated from the sternum than in control littermates
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• at E16 the xiphoid process appears as a mesenchymal condensation and is not chondrified
• the cartilaginous bifurcated section is larger than in newborn wild-type littermates
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• vertebral parapophyses fail to form and no good articulation between veterbrae and ribs develops
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• at E17 ribs are irregular in shape, asymmetrical and frequently bifurcated
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• ossification is somewhat delayed in some embryos and development in all embryos is irregular
• ribs are less likely to show the normal size taper pattern
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• otal number of ribs on either side tends to be decreased with the number of ribs per side frequently different and correlated to the direction of torsion of the body (i.e. animals with a right twist have fewer right ribs)
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• bifurcation of about 1/3 of the length of the rib is frequently detected at E17
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rib fusion
(
J:12147
)
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• detectable from the earliest appearance of the ribs (around E12) and correlated with bending or torsion of the body
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• extremely misshapen
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• ossification centers are usually later to appear and more irregular in size and shape
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• do not form normally
• parapophyses fail to form
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• neural arches fail to form normally around the open, flat neural tube and are seen to puncture the flattened neural folds
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• centra are abnormal in size, shape and position and frequently fused
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• centra are frequently fused
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• frequently fuse to form longitudinal bars of variable length and shape
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• the number and size of ossification centers at E17 is normal but the centers are usually asymmetrical and irregular in shape and sometimes fused
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nervous system
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• at E10.5 - E12.5, cell density in portions of the mantle layer of the hindbrain and cord appears to be reduced
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• extends from the midbrain to varying levels of the tail
(J:5550)
• at E14.5 - E19.5, neural tissue from the posterior border of the metencephalon back is a flat plate with a deep median groove
(J:12992)
• in some embryos flaps of more posterior tissue overlie the diencephalon and sometimes the cerebral hemispheres
(J:12992)
• at E10 the neural tissue fails to form a tube and is instead a herniated cranial mass with two broad tracts separated by a narrow groove down the back
(J:13059)
• in the last few days before birth the neural tracts are generally fractured across the lumbar region
(J:13059)
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• inner hair cells are misoriented compared to in wild-type mice
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• outer hair cells are misoriented compared to in wild-type mice
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• in some embryos a large flap-like extension of neural tissue overhangs the face
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• the number of mitotic figures is increased in the brain but not in the spinal cord
(J:133114)
• at E9.5 the neural anlage in the region of the floor is shorter compared to control littermates
(J:12992)
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• at E10 and E11 in ventricular cells of the tectum, the mitotic index is increased, generation time is increased, and M, G1 and S (on E11 only) phases of the cell cycle are prolonged
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• at E10, mesencephalic tissue protrudes creating a median dorsal extension
(J:133114)
• at E10 mesencephalon cells lack microvilli but retain a fairly normal cilium
(J:5544)
• at E12 - E14, flattened cells with apparently everted edges and deep depressions spanning multiple cells are present in lateral regions
(J:5544)
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• at E10 the lumen is collapsed
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• in some cases the cerebral hemispheres are collapsed at E14.5 - E19.5
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• at E10, the ventral midline groove is shallower and cells of the groove are less densely covered with microvilli and bulbous processes
• at E11 the cells are flattened, lack microvilli and have less prominent bulbous processes
• at E12 - E14, flattened cells with apparently everted edges and deep depressions spanning multiple cells are present in lateral regions
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• at E10.5, the roof of the metencephalon appears stretched and some cells have pulled apart
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digestive/alimentary system
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• at E9.5 the gut is shorter compared to control littermates
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growth/size/body
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• in later stages
(J:133114)
• markedly smaller at E14.5 - E19.5
(J:12992)
• reduction in size is not proportional in all parts of the body with the trunk seeming relatively short and the nervous system relatively large for the body
(J:12992)
• slightly smaller than wild-type or heterozygous littermates
(J:13059)
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• Background Sensitivity: at E14.5 - E19.5, hernias in which the liver and intestines are found outside the body wall are seen in one line (8) while 5 other inbred lines of this allele lack hernias (16, 44, 55,66, 71)
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omphalocele
(
J:13059
)
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• in a fair number of embryos small hernias are detected
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• in 2 embryos complete failure of ventral closure is seen with the heart, lungs, liver, and intestines exposed
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craniofacial
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• at E8.5 the otic pit is ill-defined and somewhat misshapen
• at E9.0 the otic pit is poorly defined, tends to have a deeper slit-like portion, and the cell are flattened, less densely arranged and have microvilli that are disorganized and distorted
• at E9.5 the otic pit lacks the oval shape seen in control littermates, ventrally the border tends to be flattened and less defined, and the epidermal cells tend to be more irregular in shape with flattened surfaces
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