Analysis Tools
mortality/aging
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• about 50% of mice survive for over 4 weeks, while 31% survive for over 74 weeks
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growth/size/body
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• heart weight to body weight ratio is higher
• however heart size at 26 weeks of age is normal, no differences in cardiomyocyte size or number and no fibrosis is seen
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round head
(
J:226977
)
ovary cyst
(
J:226977
)
 |
• 67% of females develop a unilateral ovarian cyst filled with serous fluid at 10 weeks of age
• at 26 weeks of age, 100% of females have unilateral or bilateral severe ovarian cysts
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• although body weights of mice are normal from birth to 2 days, after 1 week, weights are lower
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cardiovascular system
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• cardiomyocytes from 2 of 4 mice exhibit irregularly shaped and heterogeneous size of mitochondria, while the other half of remaining mice have numerous granules in the mitochondria, indicating cell injury
• however, cardiomyocytes exhibit normal sarcomeric structure and sarcoplasmic reticulum
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• 4 of 7 E16.5 mutants have a dramatic increase in the density of trabeculae
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• thickened at E16.5
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• echocardiography shows blood flow from the left atrium to right atrium in 3 of 7 adult mice, indicating presence of atrial septal defects
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• heart weight to body weight ratio is higher
• however heart size at 26 weeks of age is normal, no differences in cardiomyocyte size or number and no fibrosis is seen
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• 4 of 7 E16.5 mutants show thickened pulmonary valve leaflets
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• pulsed-wave Doppler waveforms at the pulmonary valve show higher ejection speed, indicating pulmonary stenosis in adults
• pulmonary valve stenosis is induced by thickened valve leaflets without evidence of infundibular stenosis
• however, M-mode echocardiography shows normal systolic and diastolic function in adults
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craniofacial
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• skull lengths are shorter in 8 week old mice
• however, skull widths are normal
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round head
(
J:226977
)
behavior/neurological
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• in the contextual fear-conditioning test, mice show reduced freezing behavior in response to re-presentation of the context, indicating a learning deficit
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• stomach milk contents are decreased in all mice, suggesting a feeding problem
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• slight decrease in the moving speed in the open-field test and in the Y-maze test
• however, overall behavior of the mice is essentially normal in the open-field, light-dark transition test, and Y-maze
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• slight decrease in the total rearing number in the open-field test
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endocrine/exocrine glands
ovary cyst
(
J:226977
)
|
|
• 67% of females develop a unilateral ovarian cyst filled with serous fluid at 10 weeks of age
• at 26 weeks of age, 100% of females have unilateral or bilateral severe ovarian cysts
|
integument
sparse hair
(
J:226977
)
ruffled hair
(
J:226977
)
long nails
(
J:226977
)
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• 68% of mice exhibit long and/or dystrophic nails
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• 68% of mice exhibit long and/or dystrophic nails
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limbs/digits/tail
polydactyly
(
J:226977
)
|
• 50% of mice exhibit extra digits on the forelimbs, while 3.6% of mice exhibit extra digits on the hindlimbs
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muscle
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• cardiomyocytes from 2 of 4 mice exhibit irregularly shaped and heterogeneous size of mitochondria, while the other half of remaining mice have numerous granules in the mitochondria, indicating cell injury
• however, cardiomyocytes exhibit normal sarcomeric structure and sarcoplasmic reticulum
|
|
• 4 of 7 E16.5 mutants have a dramatic increase in the density of trabeculae
|
reproductive system
ovary cyst
(
J:226977
)
|
|
• 67% of females develop a unilateral ovarian cyst filled with serous fluid at 10 weeks of age
• at 26 weeks of age, 100% of females have unilateral or bilateral severe ovarian cysts
|
|
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• 50% of females are infertile
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skeleton
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• skull lengths are shorter in 8 week old mice
• however, skull widths are normal
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| cardiofaciocutaneous syndrome | DOID:0060233 |
OMIM:PS115150 |
J:226977 | |
