Analysis Tools
mortality/aging
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• male progeny are underrepresented by about 50% at weaning; males at normal ratios are recovered at E16.5 and P0, indicating that half of mice die postnatally prior to weaning
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growth/size/body
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• a subset of mice show pronounced curvature of the nasal bone away from the midline of over 10 degrees
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• average surface area of the nasal bone is smaller
• however, frontal bone width, parietal bone length, interparietal bone length and width, and the distance between length and right anterolateral corner of the frontal bone are not changed
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• some mice exhibit mild midfacial hypoplasia and some mice show severe midfacial hypoplasia
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short face
(
J:317822
)
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• mice exhibit a shortened facial profile as they mature postnatally
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• mice exhibit an upward curvature of the snout as they mature postnatally
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• mice are slightly runted during embryogenesis
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• surviving mice remain runted postnatally
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craniofacial
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• shape changes show that skulls fall into three categories: 1) no changes in skull shape, 2) mild midfacial hypoplasia with a reduction in dimensions of the snout and midface, 3) severe midfacial hypoplasia and unilateral deviations away from the midline
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• average surface area of the frontal bone is smaller
• however, frontal bone width is unchanged
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• average area of the parietal bones is smaller
• however, parietal bone length is unchanged
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• a subset of mice show pronounced curvature of the nasal bone away from the midline of over 10 degrees
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• average surface area of the nasal bone is smaller
• however, frontal bone width, parietal bone length, interparietal bone length and width, and the distance between length and right anterolateral corner of the frontal bone are not changed
|
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• some mice exhibit mild midfacial hypoplasia and some mice show severe midfacial hypoplasia
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short face
(
J:317822
)
|
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• mice exhibit a shortened facial profile as they mature postnatally
|
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• mice exhibit an upward curvature of the snout as they mature postnatally
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cardiovascular system
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• a subset of mice exhibit thinning of the ventricular myocardium at E18.5
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embryo
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• mice are slightly runted during embryogenesis
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hematopoietic system
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• a subset of mice show reduced red blood cell numbers
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• a subset of mice show reduced hematocrits
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• a subset of mice show reduced hemoglobin levels
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homeostasis/metabolism
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• plasma amino acid levels are elevated in adults
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• MEFs exhibit a reduction in the functional activity of methionine synthase and methylmalonyl-CoA mutase
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integument
belly spot
(
J:317822
)
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• about 33% of adults exhibit a belly spot
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• variable penetrance of hypopigmented paws
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• variable penetrance of hypopigmented tails
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limbs/digits/tail
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• variable penetrance of hypopigmented paws
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• variable penetrance of hypopigmented tails
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muscle
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• a subset of mice exhibit thinning of the ventricular myocardium at E18.5
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nervous system
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• subset of mice exhibit thinning of the cerebral cortex at E18.5
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pigmentation
belly spot
(
J:317822
)
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• about 33% of adults exhibit a belly spot
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• variable penetrance of hypopigmented paws
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• variable penetrance of hypopigmented tails
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skeleton
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• shape changes show that skulls fall into three categories: 1) no changes in skull shape, 2) mild midfacial hypoplasia with a reduction in dimensions of the snout and midface, 3) severe midfacial hypoplasia and unilateral deviations away from the midline
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• average surface area of the frontal bone is smaller
• however, frontal bone width is unchanged
|
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• average area of the parietal bones is smaller
• however, parietal bone length is unchanged
|
|
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• a subset of mice show pronounced curvature of the nasal bone away from the midline of over 10 degrees
|
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• average surface area of the nasal bone is smaller
• however, frontal bone width, parietal bone length, interparietal bone length and width, and the distance between length and right anterolateral corner of the frontal bone are not changed
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respiratory system
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• a subset of mice show pronounced curvature of the nasal bone away from the midline of over 10 degrees
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• average surface area of the nasal bone is smaller
• however, frontal bone width, parietal bone length, interparietal bone length and width, and the distance between length and right anterolateral corner of the frontal bone are not changed
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| methylmalonic acidemia and homocysteinemia cblX type | DOID:0111814 |
OMIM:309541 |
J:317822 | |
