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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Faslgld
generalized lymphoproliferative disease
MGI:1856384
Summary 9 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Faslgld/Faslgld B6.C3-Faslgld MGI:5514349
hm2
Faslgld/Faslgld B6Smn.C3-Faslgld/J MGI:3707400
hm3
Faslgld/Faslgld C3H/HeJ-Faslgld MGI:3799212
hm4
Faslgld/Faslgld C3H/HeJ-Faslgld/J MGI:3037431
hm5
Faslgld/Faslgld involves: C3H/HeJ MGI:4430566
hm6
Faslgld/Faslgld involves: C3H/HeJ * C57BL/6 MGI:4365591
hm7
Faslgld/Faslgld involves: C3H/HeJ * CBA MGI:3800573
cx8
Apoetm1Unc/Apoetm1Unc
Faslgld/Faslgld
B6.Cg-Faslgld Apoetm1Unc MGI:5514345
cx9
Faslgld/Faslgld
Ighmtm1Cgn/Ighmtm1Cgn
involves: 129S2/SvPas * C3H/HeJ * C57BL/6 MGI:3767450


Genotype
MGI:5514349
hm1
Allelic
Composition
Faslgld/Faslgld
Genetic
Background
B6.C3-Faslgld
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Faslgld mutation (7 available); any Fasl mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• clearance of apoptotic material by macrophages is reduced
• mutants infused with lysophosphatidylcholine (LPC) show a greater accumulation of apoptotic debris in lymph nodes than similarly treated wild-type mice
• mutants exhibit an increase in apoptotic material in the lymph nodes
• increase in lymph node size and weight
• serum levels of anticardiolipin antibody are modestly elevated on a normal diet and are further elevated on a Western diet
• high titers of anti-nuclear antigen antibodies (ANAs) on normal and Western diet

cellular
• mutants exhibit an increase in apoptotic material in the lymph nodes
• clearance of apoptotic material by macrophages is reduced
• mutants infused with lysophosphatidylcholine (LPC) show a greater accumulation of apoptotic debris in lymph nodes than similarly treated wild-type mice

hematopoietic system
• clearance of apoptotic material by macrophages is reduced
• mutants infused with lysophosphatidylcholine (LPC) show a greater accumulation of apoptotic debris in lymph nodes than similarly treated wild-type mice

homeostasis/metabolism
N
• lipid levels are normal

cardiovascular system
N
• mutants do not develop atherosclerotic lesions and do not show macrophage or T cell infiltration in the aorta

growth/size/body




Genotype
MGI:3707400
hm2
Allelic
Composition
Faslgld/Faslgld
Genetic
Background
B6Smn.C3-Faslgld/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Faslgld mutation (7 available); any Fasl mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• mice infected with 500 CFU of S. aureus show half the number of granulocytes infiltrate the eyes compared to infected wild-type eyes at 24 hours after infection
• continuous treatment with recombinant murine IL12 results in sustained recruitment of NK cells to the liver
• osteoclasts are resistant to estrogen induced apoptosis
• by 7 days after TMEV infection, inflammation is present in the meninges and gray matter, but decreases by 21 days, although not as much as in controls (B6)
• by 7 days after TMEV infection, inflammation is present, decreasing slightly by 21 days, but widespread tissue damage is present, similar to controls (B6)
• tissue damage is less frequent at 45 days than in Prf-null mice
• at 180 days, some degree of brain pathology is still present, while inflammation is absent in controls
• mice infected with 500 CFU of S. aureus show signs of severe intraocular inflammation and tissue destruction
• mice infected with 500 CFU of S. aureus show half the number of granulocytes infiltrate the eyes compared to infected wild-type eyes at 24 hours after infection
• after BDL, necroinflammatory foci and lymphocytic infiltration are obviously less than in controls
• mice infected with 500 CFU of S. aureus have drastically elevated number of S. aureus CFU compared to similarly-infected wild-type mice
• inflammation and tissue damage in the brain are slightly greater than in control, resistant mice at 45 and 180 days

reproductive system
• sperm apoptosis is decreased compared to in wild-type mice
• epididymal sperm count is increased compared to in wild-type mice due to decreased sperm apoptosis

liver/biliary system
• hepatocyte cell death is reduced compared to controls after BDL
• after BDL, necroinflammatory foci and lymphocytic infiltration are obviously less than in controls
• confluent foci of feathery hepatocyte degeneration due to bile acid cytotoxicity are significantly reduced compared to controls 24 hours after BDL
• necroinflammatory foci after BDL are reduced in number compared to controls after BDL

vision/eye
• mice infected with 500 CFU of S. aureus show signs of severe intraocular inflammation and tissue destruction
• mice infected with 500 CFU of S. aureus show half the number of granulocytes infiltrate the eyes compared to infected wild-type eyes at 24 hours after infection
• mice have only 7% of b-wave amplitude remaining at 24 hours after infection with 500CFU S. aureus, and show no detectable retinal function after this time point

nervous system
• by 7 days after TMEV infection, inflammation is present in the meninges and gray matter, but decreases by 21 days, although not as much as in controls (B6)
• by 7 days after TMEV infection, inflammation is present, decreasing slightly by 21 days, but widespread tissue damage is present, similar to controls (B6)
• tissue damage is less frequent at 45 days than in Prf-null mice
• at 180 days, some degree of brain pathology is still present, while inflammation is absent in controls
• at 45 days and later time points, there is minimal or no pathology, similar to controls and in contrast to Prf-null mice

homeostasis/metabolism
• one day following bile duct ligation (BDL), serum ALT levels are significantly lower than controls

hematopoietic system
• mice infected with 500 CFU of S. aureus show half the number of granulocytes infiltrate the eyes compared to infected wild-type eyes at 24 hours after infection
• continuous treatment with recombinant murine IL12 results in sustained recruitment of NK cells to the liver
• osteoclasts are resistant to estrogen induced apoptosis

skeleton
• osteoclasts are resistant to estrogen induced apoptosis

cellular
• sperm apoptosis is decreased compared to in wild-type mice
• hepatocyte cell death is reduced compared to controls after BDL




Genotype
MGI:3799212
hm3
Allelic
Composition
Faslgld/Faslgld
Genetic
Background
C3H/HeJ-Faslgld
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Faslgld mutation (7 available); any Fasl mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• lymph node cells (T cell origin) are abnormal; cells are Ly-2-/L3T4-/surface Ig-
• cells do not generate CTL in response to stimulation with alloantigens
• cells do not proliferate in response to stimulation with alloantigens

homeostasis/metabolism
• stimulation with concanavalin A does not induce cells to produce Il2

immune system
• lymph node cells (T cell origin) are abnormal; cells are Ly-2-/L3T4-/surface Ig-
• cells do not generate CTL in response to stimulation with alloantigens
• cells do not proliferate in response to stimulation with alloantigens
• stimulation with concanavalin A does not induce cells to produce Il2

nervous system
• very low levels of apoptosis (15%) compared to wild-type (60%) are seen when cortical neurons are treated with Abeta25-35 or Abeta1-40 peptides
• neuron viability is comparable to wild-type when grown in absence of Abeta or if treated with KCN which induces necrotic cell death

cellular
• very low levels of apoptosis (15%) compared to wild-type (60%) are seen when cortical neurons are treated with Abeta25-35 or Abeta1-40 peptides
• neuron viability is comparable to wild-type when grown in absence of Abeta or if treated with KCN which induces necrotic cell death
• cells do not proliferate in response to stimulation with alloantigens




Genotype
MGI:3037431
hm4
Allelic
Composition
Faslgld/Faslgld
Genetic
Background
C3H/HeJ-Faslgld/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Faslgld mutation (7 available); any Fasl mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• when placed under hyperoxic conditions for >5 days, mice do not show increased survival (resistance to hyperoxia) compared to wild-type mice
• males survived to mean age of 396 days, females to 369 days, controls survived until 688 days (J:7306)

cardiovascular system
N
• no defect detected: no vascular disease, including necrotizing arteritis or polyarteritis

hematopoietic system
• evident after 13 weeks of age (J:7306)
• 4-fold enlargement compared to controls (J:29572)
• abnormal cells populating lymph nodes during lymphoproliferation fail to show characteristics of immature or mature T cells: (J:8267)
• express beta-chain of TCR (J:8267)
• exhibit rearrangements of beta-chain genes (J:8267)
• express TCR beta and alpha gene mRNA (J:8267)
• are Thy-1+, Ly-1+, Ly-2-, L3T4-, Ly-5(B220)+, Ly-6+, Ly-22+, Ly-24+, sIg-, ThB-, Ia-, HSA-/+, and PC.1+ (J:8267)
• bind at high levels lectins that normally bind preferentially to B cells (J:8267)
• did not proliferate or generate CTL in response to stimulation with alloantigens (J:8267)
• cells stimulated with Con A failed to produce IL-2 (J:8267)
• abnormal cells populating lymph nodes during lymphoproliferation fail to show characteristics of immature or mature T cells: (J:12002)
• express beta-chain of TCR (J:12002)
• exhibit rearrangements of beta-chain genes (J:12002)
• express TCR beta and alpha gene mRNA (J:12002)
• are Thy-1+, Ly-1+, Ly-2-, L3T4-, Ly-5(B220)+, Ly-6+, Ly-22+, Ly-24+, sIg-, ThB-, Ia-, HSA-/+, and PC.1+ (J:12002)
• bind at high levels lectins that normally bind preferentially to B cells (J:12002)
• did not proliferate or generate CTL in response to stimulation with alloantigens (J:12002)
• cells stimulated with Con A failed to produce IL-2 (J:12002)
• evident in 40% of animals autopsied when moribund
• 2-fold greater than controls
• 4-fold greater than controls (J:7306)
• 5-fold increase in peripheral blood lymphocytes (J:29572)
• development of broad-based hypergammaglobulinemia (J:7306)
• developed broad-based hypergammaglobulinemia (J:29572)
• 10-fold (J:29572)
• 10-fold IgG2a
• 3- to 6-fold IgG1 and IgG2b
• in Fas-dependent lysis assays, but not allogeneic targets

homeostasis/metabolism
• ~25% of those autopsied when moribund showed marked subcutaneous edema

immune system
• evident after 13 weeks of age (J:7306)
• 4-fold enlargement compared to controls (J:29572)
• abnormal cells populating lymph nodes during lymphoproliferation fail to show characteristics of immature or mature T cells: (J:8267)
• express beta-chain of TCR (J:8267)
• exhibit rearrangements of beta-chain genes (J:8267)
• express TCR beta and alpha gene mRNA (J:8267)
• are Thy-1+, Ly-1+, Ly-2-, L3T4-, Ly-5(B220)+, Ly-6+, Ly-22+, Ly-24+, sIg-, ThB-, Ia-, HSA-/+, and PC.1+ (J:8267)
• bind at high levels lectins that normally bind preferentially to B cells (J:8267)
• did not proliferate or generate CTL in response to stimulation with alloantigens (J:8267)
• cells stimulated with Con A failed to produce IL-2 (J:8267)
• abnormal cells populating lymph nodes during lymphoproliferation fail to show characteristics of immature or mature T cells: (J:12002)
• express beta-chain of TCR (J:12002)
• exhibit rearrangements of beta-chain genes (J:12002)
• express TCR beta and alpha gene mRNA (J:12002)
• are Thy-1+, Ly-1+, Ly-2-, L3T4-, Ly-5(B220)+, Ly-6+, Ly-22+, Ly-24+, sIg-, ThB-, Ia-, HSA-/+, and PC.1+ (J:12002)
• bind at high levels lectins that normally bind preferentially to B cells (J:12002)
• did not proliferate or generate CTL in response to stimulation with alloantigens (J:12002)
• cells stimulated with Con A failed to produce IL-2 (J:12002)
• 2-fold greater than controls
• 4-fold greater than controls (J:7306)
• 5-fold increase in peripheral blood lymphocytes (J:29572)
• development of broad-based hypergammaglobulinemia (J:7306)
• developed broad-based hypergammaglobulinemia (J:29572)
• 10-fold (J:29572)
• 10-fold IgG2a
• 3- to 6-fold IgG1 and IgG2b
• in Fas-dependent lysis assays, but not allogeneic targets
• enlarged peripheral lymph nodes evident at 13 weeks of age, abdominal evident shortly thereafter (J:7306)
• evidence of chronic inflammation at autopsy, with proliferation of lymphocytes and admixtures of histiocytes and plasma cells observed, fibrosis and multinucleated giant cells also frequently observed (J:7306)
• 50-fold heavier at 20 weeks of age than controls (J:29572)
• thymocyte-binding autoantibody present
• high titers of antinuclear autoantibodies evident by 16 weeks of age in all mice assayed (J:7306)
• high titers of antinuclear autoantibodies evident at 14 weeks of age (J:29572)
• high concentrations of anti-dsDNA autoantibodies present
• lung inflammation resembling interstitial pneumonitis evident in virtually all animals autopsied when moribund

renal/urinary system
N
• despite glomerular deposition of immune complexes, no, or very little, glomerulonephritis was observed

respiratory system
• lung inflammation resembling interstitial pneumonitis evident in virtually all animals autopsied when moribund

neoplasm
N
• regression of transplanted SCCVII tumors by gene therapy treatment with Il12b is normal

integument
• ~25% of those autopsied when moribund showed marked subcutaneous edema

growth/size/body
• evident after 13 weeks of age (J:7306)
• 4-fold enlargement compared to controls (J:29572)

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autoimmune lymphoproliferative syndrome DOID:6688 OMIM:601859
J:7306 , J:29572




Genotype
MGI:4430566
hm5
Allelic
Composition
Faslgld/Faslgld
Genetic
Background
involves: C3H/HeJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Faslgld mutation (7 available); any Fasl mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• 17beta-estradiol, dihydrotestosterone, and pyrazole all fail to stimulate osteoclast apoptosis in culture

skeleton
• 17beta-estradiol, dihydrotestosterone, and pyrazole all fail to stimulate osteoclast apoptosis in culture

hematopoietic system
• 17beta-estradiol, dihydrotestosterone, and pyrazole all fail to stimulate osteoclast apoptosis in culture

growth/size/body




Genotype
MGI:4365591
hm6
Allelic
Composition
Faslgld/Faslgld
Genetic
Background
involves: C3H/HeJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Faslgld mutation (7 available); any Fasl mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

immune system
N
• mice mount a normal immune response to influenza
• by 14 weeks
• TCRalpha/beta+CD4-CD8-B220+ T cells
• by 14 weeks
• by 57 weeks, 15% of mice develop fatal SLE-like autoimmune kidney disease unlike wild-type mice
• in 10% of mice and later than in Fasltm1.1Ast homozygotes

neoplasm

homeostasis/metabolism
• following pancreatic duct ligation, mice exhibit virtually no acinar cell loss or ductal metaplasia compared with similarly treated wild-type mice
• following pancreatic duct ligation, mice exhibit less acinar cell apoptosis than similarly treated wild-type mice
• however, areas of inflammation and fibrosis are sometimes observed following pancreatic duct ligation

hematopoietic system
• by 14 weeks
• TCRalpha/beta+CD4-CD8-B220+ T cells

integument
• in 10% of mice and later than in Fasltm1.1Ast homozygotes

growth/size/body
• by 14 weeks




Genotype
MGI:3800573
hm7
Allelic
Composition
Faslgld/Faslgld
Genetic
Background
involves: C3H/HeJ * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Faslgld mutation (7 available); any Fasl mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
N
• at 2 days after estrogen deprivation induced by gonadectomy, mutant females show a normal estrous cycle and a similar degree of vaginal regression (as measured by the decrease in vaginal organ weight) relative to wild-type females, indicating normal Fas-mediated vaginal cell death




Genotype
MGI:5514345
cx8
Allelic
Composition
Apoetm1Unc/Apoetm1Unc
Faslgld/Faslgld
Genetic
Background
B6.Cg-Faslgld Apoetm1Unc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apoetm1Unc mutation (33 available); any Apoe mutation (148 available)
Faslgld mutation (7 available); any Fasl mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• mutants on a Western diet for 12 weeks exhibit atherosclerotic lesions in the aorta (J:91058)
• aortae show higher levels of macrophage and T cell extravasation within lesions and higher levels of apoptotic cells within lesions than in single Apoe homozygotes (J:91058)
• treatment with mycophenolate mofetil decreases the severity of atherosclerosis seen in mice fed a Western diet (J:200141)
• lesion area of mutants fed a Western diet is greater than in single Apoe homozygotes, with a 3-fold increase in plaque area
• mutants on a normal diet exhibit larger atherosclerotic lesion area than single Apoe homozygotes
• aortae show macrophage and T cell extravasation within atherosclerotic lesions, showing a greater increase in macrophages and T cells than in single Apoe homozygotes

cellular
• mutants exhibit a 40% higher frequency of apoptotic material in the lymph nodes than single Fasl homozygotes
• higher levels of apoptotic cells are seen within atherosclerotic lesions than in single Apoe homozygotes
• clearance of apoptotic material by macrophages is reduced even further compared to single Fasl homozygotes when fed a Western diet

hematopoietic system
• clearance of apoptotic material by macrophages is reduced even further compared to single Fasl homozygotes when fed a Western diet
• on a Western and normal diet
• spleen weight is increased to almost double that seen in single Fasl homozygotes on a Western diet and 5-fold that seen in wild-type or single Apoe homozygotes (J:91058)
• treatment with mycophenolate mofetil, an immunosuppressive agent, reduces spleen weight (J:200141)
• total number of all T cell subsets is increased in the lymph nodes, however no differences in the percentages of CD4+, CD8+ or double negative T cells are seen
• IgG levels are elevated on both the normal and Western diet

homeostasis/metabolism
• decrease in high density lipoprotein levels compared to wild-type mice
• mutants become hypercholesterolemic on a Western diet but to a lesser extent than single Apoe homozygotes (J:91058)
• increase in low density lipoprotein (LDL) levels compared to wild-type mice
• increase in very low density lipoprotein (VLDL) levels compared to wild-type mice, however levels are lower than in single Apoe homozygotes
• mild increase in plasma triglyceride levels when fed a Western or normal diet

immune system
• aortae show macrophage and T cell extravasation within atherosclerotic lesions, showing a greater increase in macrophages and T cells than in single Apoe homozygotes
• clearance of apoptotic material by macrophages is reduced even further compared to single Fasl homozygotes when fed a Western diet
• on a Western and normal diet
• spleen weight is increased to almost double that seen in single Fasl homozygotes on a Western diet and 5-fold that seen in wild-type or single Apoe homozygotes (J:91058)
• treatment with mycophenolate mofetil, an immunosuppressive agent, reduces spleen weight (J:200141)
• total number of all T cell subsets is increased in the lymph nodes, however no differences in the percentages of CD4+, CD8+ or double negative T cells are seen
• IgG levels are elevated on both the normal and Western diet
• mutants exhibit a 40% higher frequency of apoptotic material in the lymph nodes than single Fasl homozygotes
• increase in lymph node size and weight both on the Western and normal diets; this increase is larger than in single Fasl homozygotes (J:91058)
• serum levels of anti-cardiolipin antibody are about 4-fold higher than in single Fasl homozygotes on both the normal and Western diets
• anti-nuclear antibody (ANA) titers are elevated compared to single Fasl homozygotes on a normal diet and further elevated by Western diet (J:91058)
• treatment with mycophenolate mofetil decreases the anti-nuclear antibody titer (J:200141)
• infiltration of inflammatory cells and modest crest formation

renal/urinary system
• infiltration of inflammatory cells and modest crest formation
• kidneys have larger, more cellular glomeruli (J:91058)
• treatment with mycophenolate mofetil decreases glomerular tuft size and cell count (J:200141)

growth/size/body
• on a Western and normal diet
• spleen weight is increased to almost double that seen in single Fasl homozygotes on a Western diet and 5-fold that seen in wild-type or single Apoe homozygotes (J:91058)
• treatment with mycophenolate mofetil, an immunosuppressive agent, reduces spleen weight (J:200141)




Genotype
MGI:3767450
cx9
Allelic
Composition
Faslgld/Faslgld
Ighmtm1Cgn/Ighmtm1Cgn
Genetic
Background
involves: 129S2/SvPas * C3H/HeJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Faslgld mutation (7 available); any Fasl mutation (37 available)
Ighmtm1Cgn mutation (17 available); any Ighm mutation (55 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
N
• mice have high levels of IgG after birth that rise to levels similar to wild-type littermates by 90 days after birth





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last database update
07/02/2024
MGI 6.13
The Jackson Laboratory