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 Euro Europhenome
N normal phenotype
mortality/aging
premature death ( J:74579 )
• small but significant increase in mortality by 18 months

hematopoietic system
anisocytosis ( J:41621 )
• variable red blood cell size
anemia ( J:41621 )
• mild to moderate
reticulocytosis ( J:41621 )
• high levels of reticulocytes in peripheral blood, up to 30%
• severity of reticulocytosis increases with age
increased memory T cell number ( J:74579 )
• increase as kidney disease develops
increased hematopoietic stem cell number ( J:41621 )
• increased numbers of erythroblasts in bone marrow
abnormal spleen morphology ( J:74579 )
• elevated erythroid precursors
• lymphoid tissues are otherwise normal
enlarged spleen ( J:41621 )
• marked splenomegaly at all ages examined
abnormal erythrocyte osmotic lysis ( J:41621 )
• reduced osmotic fragility

renal/urinary system
abnormal renal glomerulus morphology ( J:74579 )
• an expanded mesangial matrix often causes obstruction of capillary lumina
glomerulonephritis ( J:74579 )
• 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
renal fibrosis ( J:74579 )
• extensive scarring of the kidneys develops
abnormal renal/urinary system physiology ( J:74579 )
• normal to at least 3 months of age
increased urine protein level ( J:74579 )
• low or moderate
• in about 30% of homozygotes
hematuria ( J:74579 )
• in about 60% of mice

liver/biliary system
liver inflammation ( J:74579 )
• mononuclear leukocyte infiltrates are frequently elevated

respiratory system
lung inflammation ( J:74579 )
• mononuclear leukocyte infiltrates are frequently elevated

immune system
immune system phenotype ( J:74579 )
N
• B and T cell development and function normal (J:74579)
increased memory T cell number ( J:74579 )
• increase as kidney disease develops
abnormal spleen morphology ( J:74579 )
• elevated erythroid precursors
• lymphoid tissues are otherwise normal
enlarged spleen ( J:41621 )
• marked splenomegaly at all ages examined
abnormal immune serum protein physiology ( J:74579 )
• circulating immune complexes become elevated
increased IgA level ( J:74579 )
• starting at 10 weeks of age
increased IgG level ( J:74579 )
• starting at 10 weeks of age
increased IgM level ( J:74579 )
• starting at 10 weeks of age
abnormal self tolerance ( J:74579 )
• antinuclear antibody in about 60% of mice having hematuria
liver inflammation ( J:74579 )
• mononuclear leukocyte infiltrates are frequently elevated
glomerulonephritis ( J:74579 )
• 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
lung inflammation ( J:74579 )
• mononuclear leukocyte infiltrates are frequently elevated

homeostasis/metabolism
increased urine protein level ( J:74579 )
• low or moderate
• in about 30% of homozygotes
hematuria ( J:74579 )
• 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 Euro Europhenome
N normal phenotype
growth/size
weight loss ( J:124348 )
• severe weight loss

renal/urinary system
increased mesangial cell apoptosis ( J:124348 )
• increased mesangial cell apoptosis between 6 and 9 months of age
increased urine protein level ( J:124348 )
• increased proteinuria
kidney inflammation ( J:124348 )
• exacerbated kidney disease
• increased macrophage infiltration of the kidney
abnormal nephron morphology ( J:124348 )
• nephron loss
• increased tissue sclerosis

immune system
kidney inflammation ( J:124348 )
• exacerbated kidney disease
• increased macrophage infiltration of the kidney

homeostasis/metabolism
increased urine protein level ( J:124348 )
• increased proteinuria

integument

cellular
increased mesangial cell apoptosis ( J:124348 )
• 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 Euro Europhenome
N normal phenotype
mortality/aging
partial neonatal lethality ( J:111055 )
• most die shortly after birth
partial postnatal lethality ( J:111055 )
• very few survive to 3 weeks

respiratory system
abnormal pulmonary alveolus morphology ( J:111055 )
• reduced alveolar air space
abnormal pulmonary alveolus epithelial cell morphology ( J:111055 )
• thicker pulmonary epithelium layer
abnormal breathing pattern ( J:111055 )
• newborns actively gasp for air
• fail to breath properly

liver/biliary system
abnormal liver morphology ( J:111055 )
• frequently show liver damage
• E15 liver cells with abnormal vacuoles and enlarged mitochondria

renal/urinary system
abnormal proximal convoluted tubule morphology ( J:111055 )
• E15 cells with abnormal vacuoles and enlarged mitochondria