Analysis Tools
mortality/aging
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• about 20% die before P25
|
behavior/neurological
cardiovascular system
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• one of the most frequently observed minor features in more than 50% of mice is malformation of the heart
|
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• a subset of mice display hypertrophy of the left ventricle at E15.5
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• a subset of mice display heart malformations such as increased weight at P25
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craniofacial
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• diverse craniofacial malformations are less frequently observed, including twisted facial bones
|
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• a subset of mice exhibit facial asymmetry
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cleft palate
(
J:260599
)
|
• rarely, malformed outer ears are seen
|
digestive/alimentary system
| N |
• gastrointestinal tract of mice found dead before P25 is often filled with air bubbles
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cleft palate
(
J:260599
)
embryo
|
• neural crest cell apoptosis is increased at E10.5
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• neural crest cells are closer to the dorsal neural tube than normal at E10.5, suggesting that trunk neural crest cell migration is affected
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• neural crest cell proliferation is decreased at E10.5
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endocrine/exocrine glands
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• hypoplasia of the thymus is a less frequently observed minor feature
|
 |
• smaller androgen-sensitive seminal vesicles
|
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• tubules are generally less circular and frequently have irregular linings
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cryptorchism
(
J:260599
)
|
|
|
growth/size/body
|
• a subset of mice display hypertrophy of the left ventricle at E15.5
|
|
• a subset of mice display heart malformations such as increased weight at P25
|
|
• a subset of mice exhibit facial asymmetry
|
cleft palate
(
J:260599
)
|
• rarely, malformed outer ears are seen
|
|
• more than 50% of mice are growth retarded
|
hearing/vestibular/ear
|
• rarely, malformed outer ears are seen
|
|
• hypoplastic semicircular canals
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hematopoietic system
|
• hypoplasia of the thymus is a less frequently observed minor feature
|
immune system
|
• hypoplasia of the thymus is a less frequently observed minor feature
|
integument
|
• mice are almost fully depigmented
|
cellular
|
• neural crest cell apoptosis is increased at E10.5
|
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• neural crest cells are closer to the dorsal neural tube than normal at E10.5, suggesting that trunk neural crest cell migration is affected
|
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• proliferation of cells in culture from dissociated E10.5 embryos is reduced
|
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• neural crest cell proliferation is decreased at E10.5
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muscle
|
• a subset of mice display hypertrophy of the left ventricle at E15.5
|
nervous system
hydrocephaly
(
J:260599
)
|
• rarely, hydrocephaly is seen is seen in fetuses
|
|
• hypoplasia of the olfactory bulbs associated with a decreased sense of smell is a less frequently observed minor feature
|
exencephaly
(
J:260599
)
|
• rarely, exencephaly is seen in embryos
|
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• one of the most frequently observed minor features in more than 50% of mice is malformation of the cranial nerves
• E10.5 embryos exhibit extensive mingling between glossopharyngeal (IX) and vagal (X) nerves
|
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• E10.5 embryos exhibit supernumerary sprouting in the facial (VII) nerve
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pigmentation
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• mice are almost fully depigmented
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renal/urinary system
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• rarely, hypoplastic kidneys are seen
|
small penis
(
J:260599
)
|
|
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reproductive system
|
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• smaller androgen-sensitive seminal vesicles
|
|
• tubules are generally less circular and frequently have irregular linings
|
cryptorchism
(
J:260599
)
|
|
|
small penis
(
J:260599
)
|
|
|
 |
• females present hypoplastic uterine horns at P25
|
|
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• females show delayed opening of the vaginal cavity after P20
|
sex reversal
(
J:260599
)
|
• 25% of genetic males are phenotypic females, indicating male-to-female sex reversal
|
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• both males and females are subfertile
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respiratory system
|
• a subset of mice exhibit partial atresia of the oropharynx at P25
|
skeleton
|
• a subset of mice show delayed closure of the fontanelles at E18.5
|
taste/olfaction
|
• a less frequently observed minor feature is that some adult mice are less efficient than wild-type mice at distinguishing urine from water
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vision/eye
|
• mice exhibit retinal coloboma
• E12.5 embryos from pregnant females administered rapamycin twice a day between E9.5 and E11.5 (during peak neural crest cell migration) exhibit a 50% decrease in coloboma incidence, however embryos do not look healthy and show growth retardation
|
|
• a subset of mice exhibit unilateral eyelid ptosis
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| CHARGE syndrome | DOID:0050834 |
OMIM:214800 |
J:260599 | |
