mortality/aging
• 10 - 40% of newborns died perinatally
|
immune system
• impaired T cell receptor (TCR)-dependent T cell proliferation
|
• impaired neutrophil extravasation into the interstitial tissue
• stimulated neutrophils did not adhere to KLH-coated glass and observed no increase in cell adhesion and no decrease in the number of rolling cells upon fMLP stimulation
|
• modestly increased at 2.5-3 months of age
|
• serum total IgG, IgG1, IgG2a, and IgG2b concentrations were increased 10-15-fold at 2.5-3 months of age and IgG3 was modestly increased
|
• modestly increased at 2.5-3 months of age
|
• serum level of IL-3 was increased by more than 20-fold
|
• serum level of IL-6 was increased by more than 20-fold
|
• neutrophils showed hypersegmentation and appendix formation of the nuclei
|
• increased leukocyte counts were largely due to elevated numbers of circulating neutrophils
|
• numbers of circulating leukocytes were increased up to six-fold
|
• due to a myeloid hyperplasia within the red pulp with weight increased by 2.5-fold
|
• reactive lymphadenopathy with an accumulation of plasma cells
|
• occasional inflammatory lesions were observed in the heart, salivary gland, liver, and intestine
|
dermatitis
(
J:48542
)
• surviving mice developed extended facial and submandibular ulcerative dermatitis at about 3 months of age, with the dermal inflammatory cell infiltrate consisting of eosinophils, lymphocytes, histiocytes, and occasional perivascular plasma cells, and fewer neutrophils than expected
|
• increased susceptibility to death from S.pneumoniae infection, with no survival by day 10 of infection
|
vision/eye
hematopoietic system
• due to a myeloid hyperplasia within the red pulp with weight increased by 2.5-fold
|
• neutrophils showed hypersegmentation and appendix formation of the nuclei
|
• increased leukocyte counts were largely due to elevated numbers of circulating neutrophils
|
• numbers of circulating leukocytes were increased up to six-fold
|
• impaired T cell receptor (TCR)-dependent T cell proliferation
|
• impaired neutrophil extravasation into the interstitial tissue
• stimulated neutrophils did not adhere to KLH-coated glass and observed no increase in cell adhesion and no decrease in the number of rolling cells upon fMLP stimulation
|
• modestly increased at 2.5-3 months of age
|
• serum total IgG, IgG1, IgG2a, and IgG2b concentrations were increased 10-15-fold at 2.5-3 months of age and IgG3 was modestly increased
|
• modestly increased at 2.5-3 months of age
|
homeostasis/metabolism
• serum level of IL-3 was increased by more than 20-fold
|
• serum level of IL-6 was increased by more than 20-fold
|
integument
dermatitis
(
J:48542
)
• surviving mice developed extended facial and submandibular ulcerative dermatitis at about 3 months of age, with the dermal inflammatory cell infiltrate consisting of eosinophils, lymphocytes, histiocytes, and occasional perivascular plasma cells, and fewer neutrophils than expected
|
reddish skin
(
J:48542
)
• surviving mice developed reddening of the skin
|
cellular
• impaired T cell receptor (TCR)-dependent T cell proliferation
|
growth/size/body
• due to a myeloid hyperplasia within the red pulp with weight increased by 2.5-fold
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
leukocyte adhesion deficiency 1 | DOID:0110910 |
OMIM:116920 |
J:48542 |