Phenotypes Associated with This Genotype

Genotype
MGI:3850627

• Allelic Composition: Man2a1^tm1Jxm/Man2a1^tm1Jxm
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

growth/size/body

enlarged spleen ( J:41621 )

• marked splenomegaly at all ages examined

mortality/aging

premature death ( J:74579 )

• small but significant increase in mortality by 18 months

hematopoietic system

abnormal hematopoietic system morphology/development ( J:41621 )

anemia ( J:41621 )

• mild to moderate

abnormal erythrocyte morphology ( J:41621 )

anisocytosis ( J:41621 )

• variable red blood cell size

increased memory T cell number ( J:74579 )

• increase as kidney disease develops

reticulocytosis ( J:41621 )

• high levels of reticulocytes in peripheral blood, up to 30%

• severity of reticulocytosis increases with age

increased hematopoietic stem cell number ( J:41621 )

• increased numbers of erythroblasts in bone marrow

abnormal spleen morphology ( J:74579 )

• lymphoid tissues are otherwise normal

• elevated erythroid precursors

enlarged spleen ( J:41621 )

• marked splenomegaly at all ages examined

decreased erythrocyte osmotic fragility ( J:41621 )

• reduced osmotic fragility

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

renal/urinary system

abnormal renal glomerulus morphology ( J:74579 )

• an expanded mesangial matrix often causes obstruction of capillary lumina

renal glomerular immunoglobulin deposits ( J:74579 )

• elevated Ig and C3 deposition in kidney glomeruli by 6 months

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

glomerulonephritis ( J:74579 )

• in more than 80% of homozygotes at 12 months of age

• frequently elevated mononuclear leukocyte infiltrates

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

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 system physiology ( J:74579 )

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

• 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 Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital dyserythropoietic anemia		DOID:1338	OMIM:PS224120	J:41621
systemic lupus erythematosus		DOID:9074	OMIM:152700 OMIM:300809 OMIM:605480 OMIM:608437 OMIM:609903 OMIM:609939 OMIM:610065 OMIM:610066 OMIM:612254 OMIM:612378 OMIM:613145 OMIM:614420	J:74579