Phenotypes associated with this allele

• Allele Symbol: Fas^tm1Osa
• Allele Name: targeted mutation 1, Osaka University Medical School
• Allele ID: MGI:1861923
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fas^tm1Osa/Fas^tm1Osa	involves: 129P2/OlaHsd * C57BL/6	MGI:2450098
cx2	Fas^tm1Osa/Fas^tm1Osa Gzma^tm1Simn/Gzma^tm1Simn Gzmb^tm1Ley/Gzmb^tm1Ley	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6	MGI:3589259

Genotype
MGI:2450098

hm1

• Allelic Composition: Fas^tm1Osa/Fas^tm1Osa
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

Histopathology of Fas-deficient mice.

mortality/aging

premature death ( J:64296 )

• 50% dead at about 5 months of age

liver/biliary system

liver hyperplasia ( J:64296 )

• significantly heavier at 12 weeks of age and becomes 50-60% heavier by 16 weeks of age

• number of hepatocytes per each liver lobe is increased

abnormal hepatocyte morphology ( J:64296 )

• hepatocyte nuclear areas are variable and larger

immune system

abnormal T cell clonal deletion ( J:32125 )

• peripheral clonal deletion of mature T cells against a bacterial superantigen is impaired

increased leukocyte cell number ( J:32125 )

• 20x higher than in controls, attributable to increased lymphocyte numbers

increased lymphocyte cell number ( J:32125 , J:64296 )

• lymphocytosis; progressively accumulate abnromal T cells Thy1⁺ B220⁺ CD4^- CD8 ^- (J:64296)

increased B cell number ( J:32125 )

• increase in the number of normal B cells

increased IgG level ( J:32125 )

• 10-100x higher serum levels of IgG1, IgG2a, IgG2b, and IgG3 at 16 weeks of age

increased IgG1 level ( J:32125 )

increased IgG2a level ( J:32125 )

increased IgG2b level ( J:32125 )

increased IgG3 level ( J:32125 )

abnormal lymph organ size ( J:64296 )

enlarged spleen ( J:32125 , J:64296 )

• spleen becomes progressively larger (J:64296)

enlarged lymph nodes ( J:32125 , J:64296 )

• lymph nodes become progressively larger (J:64296)

lymphoid hyperplasia ( J:64296 )

abnormal hypersensitivity reaction ( J:32125 , J:64296 )

• occasional infiltration of lymphocytes into tissues such as the lungs and liver (J:64296)

increased autoantibody level ( J:32125 )

• 50-500x higher levels of dsDNA and ssDNA autoantibodies at 16 weeks of age

increased anti-double stranded DNA antibody level ( J:32125 )

increased anti-single stranded DNA antibody level ( J:32125 )

increased susceptibility to parasitic infection ( J:81397 )

• decreased survival after infection with Trypanosoma cruzi even though were able to clear parasites from blood and affected organs

hematopoietic system

enlarged spleen ( J:32125 , J:64296 )

• spleen becomes progressively larger (J:64296)

abnormal T cell clonal deletion ( J:32125 )

• peripheral clonal deletion of mature T cells against a bacterial superantigen is impaired

increased leukocyte cell number ( J:32125 )

• 20x higher than in controls, attributable to increased lymphocyte numbers

increased lymphocyte cell number ( J:32125 , J:64296 )

• lymphocytosis; progressively accumulate abnromal T cells Thy1⁺ B220⁺ CD4^- CD8 ^- (J:64296)

increased B cell number ( J:32125 )

• increase in the number of normal B cells

increased IgG level ( J:32125 )

• 10-100x higher serum levels of IgG1, IgG2a, IgG2b, and IgG3 at 16 weeks of age

increased IgG1 level ( J:32125 )

increased IgG2a level ( J:32125 )

increased IgG2b level ( J:32125 )

increased IgG3 level ( J:32125 )

growth/size/body

liver hyperplasia ( J:64296 )

• significantly heavier at 12 weeks of age and becomes 50-60% heavier by 16 weeks of age

• number of hepatocytes per each liver lobe is increased

enlarged spleen ( J:32125 , J:64296 )

• spleen becomes progressively larger (J:64296)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autoimmune lymphoproliferative syndrome		DOID:6688	OMIM:601859	J:32125

Genotype
MGI:3589259

cx2

• Allelic Composition: Fas^tm1Osa/Fas^tm1Osa; Gzma^tm1Simn/Gzma^tm1Simn; Gzmb^tm1Ley/Gzmb^tm1Ley
• Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

immune system

increased susceptibility to parasitic infection ( J:81397 )

• decreased clearance and survival after infection with Trypanosoma cruzi