Analysis Tools
mortality/aging
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• about 30% of males are lost between birth and weaning
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• significant lethality seen by E10.5 with continued loss of mice through birth
• this loss is somewhat less severe than in hemizygous males
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embryo
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• failure, delay, or abnormal direction of turning are seen
• some embryos that survive beyond the turning stage show rotation defects including abnormal thoracic and lumbar flexion, and/or abnormal looping of the distal tail (including the hindlimb buds)
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• sidedness of the malformations appears to be random
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• some embryos with no other gross abnormalities show evidence of growth delay
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• seen in some embryos at E8.5
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• at E9.5, failure of fusion is seen in some embryos in the midbrain-hindbrain region
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nervous system
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• seen in some embryos at E8.5
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• at E9.5, failure of fusion is seen in some embryos in the midbrain-hindbrain region
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• abnormal midbrain size and structure in some embryos
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• abnormal forebrain size and structure in some embryos
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• exencephalic mice have a disorganized basal ganglia
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• exencephalic mice have an anteriorly displaced diencephalon
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• exencephalic mice have a disorganized thalamus
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• exencephalic mice have a disorganized hippocampus
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• exencephalic mice have a disorganized cerebral cortex
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• seen in exencephalic mice
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anencephaly
(
J:75951
)
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• seen in a few stillborn pups
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exencephaly
(
J:75951
)
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• seen in some pups delivered by Ceasarian sections
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• xencephalic mice have rudimentary olfactory nerves
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cardiovascular system
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• a variety of cardiac defects are seen in a subset of embryos and these embryos always also have other abnormalities
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• right aortic arch and interrupted aortic arch are seen in some embryos
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• right aortic arch and interrupted aortic arch are seen in some embryos
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• abnormal systemic venous connections
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• one of the most common heart defects is dextro-transposition of the great arteries
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• at E10.5 in several embryos the heart is positioned to the left side of the thorax, however in some abnormally turned embryos the heart is properly positioned at the midline and in 2 cases the heart is positioned to the right side of the thorax
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respiratory system
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• in a few embryos complete lung reversal is seen
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digestive/alimentary system
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• in some mice right sided stomach is seen
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liver/biliary system
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• in some mice reversed liver lobation is seen
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immune system
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• the spleen is always present but often hypoplastic
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skeleton
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• 10 null mice (includes males and females) had mostly unilateral axial skeletal defects
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• partial rib duplications and inappropriately posterior sites of rib insertion are found
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• partial duplications and partial fusions are seen
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• apparent homeotic transformations
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growth/size/body
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• in some mice right sided stomach is seen
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• some embryos with no other gross abnormalities show evidence of growth delay
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• in a few embryos complete lung reversal is seen
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hematopoietic system
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• the spleen is always present but often hypoplastic
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| visceral heterotaxy | DOID:0050545 |
OMIM:306955 OMIM:605376 OMIM:606325 OMIM:613751 OMIM:614779 OMIM:PS306955 |
J:75951 | |
