Analysis Tools
mortality/aging
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• a few older homozygotes died unexpectedly with signs of hemorrhaging
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• most homozygotes die during the first weeks of life, although some can survive to adulthood, especially if they are from smaller litters
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growth/size/body
short snout
(
J:64192
)
broad head
(
J:64192
)
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• heads are somewhat wider
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• body weight of 3-6 month old homozygotes is about 50% that of wild-type
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behavior/neurological
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• mutants are more sensitive to handling
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• mutants frequently chirp or chatter
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craniofacial
short snout
(
J:64192
)
broad head
(
J:64192
)
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• heads are somewhat wider
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cardiovascular system
hemorrhage
(
J:64192
)
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• seen in a few of the surviving older mice
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reproductive system
digestive/alimentary system
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• reduction in the thickness of the gut epithelium that normally gives rise to crypts
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• in some cases, an increase in the numbers of mucin-secreting cells is seen in the distal-most part of the small intestine
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• at P18, the crypts are reduced in depth and less developed
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• the colon exhibits an increase in the number of goblet cells on the intestinal luminal surface and an increase in size and number of mucin vacuoles within the goblet cells
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• lamina propria underlying the villi is reduced in thickness
• the distal small intestine exhibits numerous and aberrantly distributed cells with prominent vacuoles
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• the lining of the intestine is composed of shorter, slimmer and less tightly packed villi
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• in some cases, an increase in the numbers of goblet cells is seen in the distal-most part of the small intestine
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• villi are shorter and slimmer
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endocrine/exocrine glands
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• at P18, the crypts are reduced in depth and less developed
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• the colon exhibits an increase in the number of goblet cells on the intestinal luminal surface and an increase in size and number of mucin vacuoles within the goblet cells
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• thymic cellularity is reduced, with a 10-fold reduction in thymocytes
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• thymus shows a 10-fold reduction in thymocytes
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hematopoietic system
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• thymic cellularity is reduced, with a 10-fold reduction in thymocytes
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• thymus shows a 10-fold reduction in thymocytes
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• reduced numbers of mature cells in the various compartments of the hematopoietic lineage with increased proportions of more immature cells
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• thymus has increased numbers of double-negative cells (12.4% vs 7.6% in controls)
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• thymus is deficient in double-positive cells (56.5% vs. 78.8% in controls)
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• mutants surviving to adulthood are mildly anemic
• decrease in Ter119+ cells in the bone marrow suggesting that the anemia is due to a reduction of red blood cell precursors in the marrow
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• mutants surviving to adulthood have modestly reduced hematocrits (39.1% vs 45% for controls)
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• newborns and mutants surviving to adulthood have a high number of erythrocytes containing nuclear fragments termed Howell-Jolly bodies
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macrocytosis
(
J:64192
)
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• red blood cells are more severely macrocytic and polychromatic in newborns and mutants surviving to adulthood show an increase in mean erythrocyte volume
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• a higher proportion of granulocyte precursors (blasts, promyelocytes, myelocytes, and metamyelocytes) are seen in the marrow compared to wild-type
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• several mutants have a paucity of mature granulocytes in the peripheral blood
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• greater proportion of natural killer cells in the bone marrow of pups (5.2% vs. 2.3% in controls)
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• newborns show a prevalence of nucleated red blood cells, reticulocytes and cells containing Howell-Jolly bodies
• bone marrow of P3 mice shows a reduction in erythroid precursors and a predominance of early myeloid elements, many of which are dysplastic
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immune system
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• thymic cellularity is reduced, with a 10-fold reduction in thymocytes
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• thymus shows a 10-fold reduction in thymocytes
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• thymus has increased numbers of double-negative cells (12.4% vs 7.6% in controls)
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• thymus is deficient in double-positive cells (56.5% vs. 78.8% in controls)
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• a higher proportion of granulocyte precursors (blasts, promyelocytes, myelocytes, and metamyelocytes) are seen in the marrow compared to wild-type
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• several mutants have a paucity of mature granulocytes in the peripheral blood
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• greater proportion of natural killer cells in the bone marrow of pups (5.2% vs. 2.3% in controls)
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integument
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• severe skin ulcers or abscesses are seen in a few of the surviving older mice
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cellular
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• the colon exhibits an increase in the number of goblet cells on the intestinal luminal surface and an increase in size and number of mucin vacuoles within the goblet cells
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• in some cases, an increase in the numbers of goblet cells is seen in the distal-most part of the small intestine
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