All Phenotypes Man2a1<tm1Jxm> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Man2a1^tm1Jxm/Man2a1^tm1Jxm	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3850627
cx2	Man2a1^tm1Jxm/Man2a1^tm1Jxm Rag1^tm1Mom/Rag1^tm1Mom	B6.129-Rag1^tm1Mom Man2a1^tm1Jxm	MGI:3850631
cx3	Man2a1^tm1Jxm/Man2a1^tm1Jxm Man2a2^tm1Mfu/Man2a2^tm1Mfu	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3850629

♀	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 )

• elevated erythroid precursors

• lymphoid tissues are otherwise normal

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

Allelic Composition	Man2a1^tm1Jxm/Man2a1^tm1Jxm Rag1^tm1Mom/Rag1^tm1Mom
Genetic Background	B6.129-Rag1^tm1Mom Man2a1^tm1Jxm

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Man2a1^tm1Jxm mutation (1 available); any Man2a1 mutation (62 available)
Rag1^tm1Mom mutation (49 available); any Rag1 mutation (123 available)

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

growth/size/body

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

alopecia ( J:124348 )

cellular

increased mesangial cell apoptosis ( J:124348 )

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

Allelic Composition	Man2a1^tm1Jxm/Man2a1^tm1Jxm Man2a2^tm1Mfu/Man2a2^tm1Mfu
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Man2a1^tm1Jxm mutation (1 available); any Man2a1 mutation (62 available)
Man2a2^tm1Mfu mutation (0 available); any Man2a2 mutation (54 available)

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:111055 )

• some losses between E15 and E18

neonatal lethality, incomplete penetrance ( J:111055 )

• most die shortly after birth

postnatal lethality, incomplete penetrance ( 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

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