Mouse Genome Informatics
hm1
    Man2a1tm1Jxm/Man2a1tm1Jxm
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• small but significant increase in mortality by 18 months

hematopoietic system
• variable red blood cell size
• high levels of reticulocytes in peripheral blood, up to 30%
• severity of reticulocytosis increases with age
• increase as kidney disease develops
• mild to moderate
• increased numbers of erythroblasts in bone marrow
• elevated erythroid precursors
• lymphoid tissues are otherwise normal
• marked splenomegaly at all ages examined
• reduced osmotic fragility
• starting at 10 weeks of age
• starting at 10 weeks of age
• starting at 10 weeks of age

renal/urinary system
• an expanded mesangial matrix often causes obstruction of capillary lumina
• extensive scarring of the kidneys develops
• normal to at least 3 months of age
• low or moderate
• in about 30% of homozygotes
• in about 60% of mice
• in more than 80% of homozygotes at 12 months of age
• elevated Ig and C3 deposition in kidney glomeruli by 6 months
• frequently elevated mononuclear leukocyte infiltrates

liver/biliary system
• mononuclear leukocyte infiltrates are frequently elevated

respiratory system
• mononuclear leukocyte infiltrates are frequently elevated

immune system
N
• B and T cell development and function normal (J:74579)
• increase as kidney disease develops
• elevated erythroid precursors
• lymphoid tissues are otherwise normal
• marked splenomegaly at all ages examined
• circulating immune complexes become elevated
• starting at 10 weeks of age
• starting at 10 weeks of age
• starting at 10 weeks of age
• antinuclear antibody in about 60% of mice having hematuria
• mononuclear leukocyte infiltrates are frequently elevated
• in more than 80% of homozygotes at 12 months of age
• elevated Ig and C3 deposition in kidney glomeruli by 6 months
• frequently elevated mononuclear leukocyte infiltrates
• mononuclear leukocyte infiltrates are frequently elevated

homeostasis/metabolism
• low or moderate
• in about 30% of homozygotes
• in about 60% of mice


Mouse Genome Informatics
cx2
    Man2a1tm1Jxm/Man2a1tm1Jxm
Rag1tm1Mom/Rag1tm1Mom

B6.129-Rag1tm1Mom Man2a1tm1Jxm
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
growth/size/body
• severe weight loss

renal/urinary system
• increased mesangial cell apoptosis between 6 and 9 months of age
• increased proteinuria
• exacerbated kidney disease
• increased macrophage infiltration of the kidney
• nephron loss
• increased tissue sclerosis

immune system
• exacerbated kidney disease
• increased macrophage infiltration of the kidney

homeostasis/metabolism
• increased proteinuria

integument

cellular
• increased mesangial cell apoptosis between 6 and 9 months of age


Mouse Genome Informatics
cx3
    Man2a1tm1Jxm/Man2a1tm1Jxm
Man2a2tm1Mfu/Man2a2tm1Mfu

involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• most die shortly after birth
• very few survive to 3 weeks

respiratory system
• reduced alveolar air space
• thicker pulmonary epithelium layer
• newborns actively gasp for air
• fail to breath properly

liver/biliary system
• frequently show liver damage
• E15 liver cells with abnormal vacuoles and enlarged mitochondria

renal/urinary system
• E15 cells with abnormal vacuoles and enlarged mitochondria