nervous system
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• Background Sensitivity: penetrance of abnormalities is nearly complete on C57BL/6J but deviations from normal are subtle on SWR
• Background Sensitivity: in a highly penetrant background abnormalities can be seen after developmental stage E12
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• some mice exhibit truncation anterior to the mesencephalon
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• 50% of mice exhibit forebrain defects
• at E8.5, some mice exhibit reduction in the anterior forebrain
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• the preoptic area and pituitary regions are reduced or absent in severely affected mice
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• the ventral telencephalon is more affected than the dorsal telencephalon
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• 1 of 9 mice exhibit univerntricular telencephalon
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• telencephalic vesicles are absent or reduced to a single vesicle
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vision/eye
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• 50% of mice exhibit eye defects that approach the midline, fuse to form a cyclopic eye, or are reduced in size or absent
|
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• in 1 of 9 mice
(J:7938)
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• in 3 of 9 mice
(J:7938)
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craniofacial
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• Background Sensitivity: penetrance of abnormalities is nearly complete on C57BL/6J but deviations from normal are subtle on SWR
• Background Sensitivity: in a highly penetrant background abnormalities can be seen after developmental stage E12
|
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• mildly affected mice exhibit a reduced lower jaw and disruption of the distal midline structures
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• some mice lack divergency of the medial nasal prominences
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• at E9.5 to E10.5, the distal tips of the first branchial arch are fused unlike in wild-type mice
• the first branchial arch is fused into a single midline structure
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• some mice lack facial features
|
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• 6 of 9 mice exhibit narrow faces
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• in mildly affected mice the forehead is reduced
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• in severely affected mice the head ends in a proboscis
|
|
• 50% of mice exhibit outer ear defects
|
respiratory system
skeleton
|
• Background Sensitivity: penetrance of abnormalities is nearly complete on C57BL/6J but deviations from normal are subtle on SWR
• Background Sensitivity: in a highly penetrant background abnormalities can be seen after developmental stage E12
|
|
• mildly affected mice exhibit a reduced lower jaw and disruption of the distal midline structures
|
|
• 17% of mice exhibit a crankshaft sternum morphology
|
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• mice exhibit an ectopic rib on the 7th vertebra
|
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• all mice exhibit some kind of transformation compared to 18% of wild-type mice
|
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• 65% of mice exhibit a T13 to L1 transformation unlike wild-type mice
|
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• 52% of mice exhibit C7 to T1 transformation compared with 6% of wild-type mice
|
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• 96% of mice exhibit an L6 to S1 transformation compared to 18% of wild-type mice
|
digestive/alimentary system
embryo
|
• at E9.5 to E10.5, the distal tips of the first branchial arch are fused unlike in wild-type mice
• the first branchial arch is fused into a single midline structure
|
|
• Background Sensitivity: penetrance of abnormalities is nearly complete on C57BL/6J but deviations from normal are subtle on SWR
• Background Sensitivity: in a highly penetrant background abnormalities can be seen after developmental stage E12
|
endocrine/exocrine glands
hearing/vestibular/ear
|
• 50% of mice exhibit outer ear defects
|
growth/size/body
|
• some mice lack facial features
|
|
• 6 of 9 mice exhibit narrow faces
|
|
• in mildly affected mice the forehead is reduced
|
|
• in severely affected mice the head ends in a proboscis
|
|
• 50% of mice exhibit outer ear defects
|