Analysis Tools
mortality/aging
 |
• approximately 55% of the heterozygous female died by day 9 with a severely runted and anemic appearance
• by day 10, surviving heterozygous females showed a striped fur and a few focal hyperkeratotic lesion
• those survived to 1 month gained weight and looked normal
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liver/biliary system
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• numbers of apoptotic cells in some heterozygous female mice at E12
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growth/size/body
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• about half the size and weight of normal siblings by 5 days after birth
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behavior/neurological
adipose tissue
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• lack of subcutaneous fat in day 9 heterozygous female mice
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immune system
small thymus
(
J:63054
)
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• in day 9 heterozygous female
• massive diffuse destruction of cortical lymphocytes
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small spleen
(
J:63054
)
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• the white pulp was barely discernible and lacked a marginal zone in day 9 heterozygous female spleen
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erythroderma
(
J:63054
)
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• a patchy pigmentation that progressed to severe inflammation by 2 days after birth
• generalized erythematous eruption of the skin
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cellular
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• increased apoptosis of lymphocytes in day 9 thymus and spleen
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• dispersed apoptotic keratinocytes in day 3
• large clusters of apoptotic cells in day 9 epidermis
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• numbers of apoptotic cells in some heterozygous female mice at E12
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hematopoietic system
small thymus
(
J:63054
)
|
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• in day 9 heterozygous female
• massive diffuse destruction of cortical lymphocytes
|
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• the bone marrow within the sternum was moderately cellular and composed almost entirely of nearly mature granulocytes in day 9 heterozygous female
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• no megakaryocytes in the bone marrow within the sternum in day 9 heterozygous female
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small spleen
(
J:63054
)
|
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• the white pulp was barely discernible and lacked a marginal zone in day 9 heterozygous female spleen
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integument
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• lack of subcutaneous fat in day 9 heterozygous female mice
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• dispersed apoptotic keratinocytes in day 3
• large clusters of apoptotic cells in day 9 epidermis
|
erythroderma
(
J:63054
)
|
|
• a patchy pigmentation that progressed to severe inflammation by 2 days after birth
• generalized erythematous eruption of the skin
|
sparse hair
(
J:63054
)
|
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• sparse hair growth notable by day 5 and later becomes bald
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• hyperkeratotic lesions with spotty melanin deposits in certain areas
• lesions were shed by day 8 or 9
• diffuse hyperplasia of the epidermis with multifocal hyperkeratosis and parakeratosis in tail from 8 or 9 day old
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parakeratosis
(
J:63054
)
|
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• diffuse hyperplasia of the epidermis with multifocal hyperkeratosis and parakeratosis in tail from 8 or 9 day old
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endocrine/exocrine glands
small thymus
(
J:63054
)
|
|
• in day 9 heterozygous female
• massive diffuse destruction of cortical lymphocytes
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Bloch-Sulzberger syndrome | DOID:12305 |
OMIM:308300 |
J:63054 | |
