About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Bsgtm1Tmu
targeted mutation 1, Takashi Muramatsu
MGI:2177802
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Bsgtm1Tmu/Bsgtm1Tmu involves: 129S2/SvPas MGI:6430297
hm2
Bsgtm1Tmu/Bsgtm1Tmu involves: 129S2/SvPas * C57BL/6J MGI:2177803
hm3
Bsgtm1Tmu/Bsgtm1Tmu involves: 129/Sv * 129S2/SvPas MGI:2177804


Genotype
MGI:6430297
hm1
Allelic
Composition
Bsgtm1Tmu/Bsgtm1Tmu
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bsgtm1Tmu mutation (0 available); any Bsg mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• pristane-treated mice show increased spleen:body weight ratio at 6 months post-treatment
• mice with pristane-induced lupus nephritis show an increase in the frequency and number of Th17, but not Th1, Treg cells in the spleen
• Th17 cells are prominent in the kidneys of pristine-treated mice
• naive CD4+ T cells grown under Th17 cell differentiation conditions in vitro show generation of a greater frequency of Th17 cells
• however, T cell development in the thymus is not affected in pristane-treated mice compared treated wild-type mice
• pristane-treated mice show increased total number of splenocytes at 6 months post-treatment
• serum levels of C3 are decreased in pristane-treated mice compared to treated controls
• mice show increased pristane (2,6,10,14-tetramethylpentadecane)-induced lupus nephritis, showing more severe and diffuse glomerulonephritis, mesangial hypercellularity and matrix expansion, endocapillary cell proliferation, and glomerular capillary loops with subendothelial immune complex deposition compared to only mild proliferative glomerulonephritis in controls
• however, pristane-treated mice show a similar level of humoral autoimmunity (single-stranded DNA and double-stranded DNA autoantibodies) as controls
• pristane-treated mice injected weekly with an anti-IL-17 antibody from 2 to 6 months show reduced lupus nephritis
• pristane-treated mice show more severe and diffuse glomerulonephritis compared to treated controls

renal/urinary system
• mice with pristane-induced lupus nephritis show an increased kidney to body weight ratio at 6 months post-induction
• albuminuria is increased in pristane-treated mice
• pristane-treated mice injected with an anti-IL-17 antibody show amelioration of albuminuria
• glomeruli show greater deposition of IgG, C3, and C1q in the mesangium and capillary loop of mice with pristane-induced lupus nephritis
• the numbers of CD4+ T cells and CD68+ macrophages are increased in the glomeruli of pristane-treated mice
• pristane-treated mice show more severe mesangial hypercellularity than treated controls
• pristane-treated mice show more severe and diffuse glomerulonephritis compared to treated controls
• pristane-treated mice show more severe matrix expansion than treated controls

homeostasis/metabolism
• serum levels of C3 are decreased in pristane-treated mice compared to treated controls
• albuminuria is increased in pristane-treated mice
• pristane-treated mice injected with an anti-IL-17 antibody show amelioration of albuminuria

hematopoietic system
• pristane-treated mice show increased spleen:body weight ratio at 6 months post-treatment
• mice with pristane-induced lupus nephritis show an increase in the frequency and number of Th17, but not Th1, Treg cells in the spleen
• Th17 cells are prominent in the kidneys of pristine-treated mice
• naive CD4+ T cells grown under Th17 cell differentiation conditions in vitro show generation of a greater frequency of Th17 cells
• however, T cell development in the thymus is not affected in pristane-treated mice compared treated wild-type mice
• pristane-treated mice show increased total number of splenocytes at 6 months post-treatment

cellular
• pristane-treated mice show more severe mesangial hypercellularity than treated controls

growth/size/body
• mice with pristane-induced lupus nephritis show an increased kidney to body weight ratio at 6 months post-induction
• pristane-treated mice show increased spleen:body weight ratio at 6 months post-treatment




Genotype
MGI:2177803
hm2
Allelic
Composition
Bsgtm1Tmu/Bsgtm1Tmu
Genetic
Background
involves: 129S2/SvPas * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bsgtm1Tmu mutation (0 available); any Bsg mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• at 35 weeks of age, the length of the outer segment was reduced to less than half of the normal length
• at 8 weeks of age the neural retina appeared normal, but arrangement of outer segments was disordered partially from specimen to specimen at this age
• at 43 weeks of age, most photoreceptor cells were absent from the retina

endocrine/exocrine glands
• lectin histochemistry analysis using Griffornia simplicifolia agglutinin II (GSA II) revealed that N-acetylglucosamine (GlcNAc) terminated N-glycans are significantly reduced in testes at 12-24 weeks of age
• seminiferous tubular lumen size is 65% smaller than that of wild type testes
• numerous vacuoles present within the seminiferous epithelium in aged testes at 15-17 months, but not in younger testes at 12-24 weeks of age
• marked loss of spermatogonia and failure of spermatogenesis in some areas of the seminiferous epithelium in aged testes
• integrity of the blood-testis barrier (BTB) is disrupted at 12-24 weeks of age; after injection into the testicular interstitial space, a biotin tracer is shown to penetrate beyond the BTB and surround early pachytene spermatocytes rather than remaining restricted to the interstitium and the basal compartment of seminiferous tubules as in wild-type controls
• expression of CDH2 (aka N-cadherin) is greatly reduced in the basal compartment of the seminiferous tubules at the site of the BTB
• Sertoli cells are clumped in the lumen of some aged seminiferous tubules, appearing to have lost their attachment to the basement membrane
• testes are smaller than those of wild type males
• testis to body weight ratio is significantly decreased

cellular
• abnormal chromatin patterns, with micronuclear formation, in pachytene spermatocytes
• increased numbers of spermatocytes with pyknotic nuclei
• decrease in the number of spermatogenic cells with complete loss of elongated spermatids and mature spermatozoa
• no sperm found in the testis or epididymis (J:46376)
(J:199573)
• both pachytene spermatocytes and round spermatids form multinucleated giant cells, unlike in wild type testes
• marked increase in the number of apoptotic spermatocytes per seminiferous tubule, as revealed by TUNEL analysis

mortality/aging
• half of the mice that survive past implantation die before 1 month after birth due to interstitial pneumonia
• most embryos die around the peri-implantation stage

vision/eye
N
• appearance of the fundus at 40 weeks of age of the homozygous mice did not differ significantly from that of the controla
• at 35 weeks of age, the length of the outer segment was reduced to less than half of the normal length
• at 8 weeks of age the neural retina appeared normal, but arrangement of outer segments was disordered partially from specimen to specimen at this age
• at 43 weeks of age, most photoreceptor cells were absent from the retina
• thickness of the outer nuclear layer was reduced to four layers
• the neural retina degenerated progressively with age with the characteristic changes observed in photoreceptor cell layer
• with a scotopic stimulus, peak latencies of the homozygous mice were slightly longer but not statistically significant
• with a photopic stimulus, no difference in latency is seen
• with a scotopic stimulus, at both 5-13 weeks and at 33-44 weeks, homozygous mice showed a significant reduction in b-wave amplitude
• with a photopic stimulus, homozygous mice showed significantly reduced b-wave amplitudes and elevated stimulus thresholds

growth/size/body
• body weight of mice which die between 3 and 4 weeks is only 1/3 to 1/4 of that of control littermates at 3 weeks of age
• surviving males weigh about 2/3 of control males and females about 4/5 of control females

immune system
• the alveolar septum is thick with congestion and lymphocyte and granulocyte infiltration is seen

liver/biliary system
• liver appears anemic and microscopically shows vacuolar degeneration
• liver is slightly smaller

reproductive system
• abnormal chromatin patterns, with micronuclear formation, in pachytene spermatocytes
• increased numbers of spermatocytes with pyknotic nuclei
• decrease in the number of spermatogenic cells with complete loss of elongated spermatids and mature spermatozoa
• no sperm found in the testis or epididymis (J:46376)
(J:199573)
• both pachytene spermatocytes and round spermatids form multinucleated giant cells, unlike in wild type testes
• marked increase in the number of apoptotic spermatocytes per seminiferous tubule, as revealed by TUNEL analysis
• lectin histochemistry analysis using Griffornia simplicifolia agglutinin II (GSA II) revealed that N-acetylglucosamine (GlcNAc) terminated N-glycans are significantly reduced in testes at 12-24 weeks of age
• seminiferous tubular lumen size is 65% smaller than that of wild type testes
• numerous vacuoles present within the seminiferous epithelium in aged testes at 15-17 months, but not in younger testes at 12-24 weeks of age
• marked loss of spermatogonia and failure of spermatogenesis in some areas of the seminiferous epithelium in aged testes
• integrity of the blood-testis barrier (BTB) is disrupted at 12-24 weeks of age; after injection into the testicular interstitial space, a biotin tracer is shown to penetrate beyond the BTB and surround early pachytene spermatocytes rather than remaining restricted to the interstitium and the basal compartment of seminiferous tubules as in wild-type controls
• expression of CDH2 (aka N-cadherin) is greatly reduced in the basal compartment of the seminiferous tubules at the site of the BTB
• Sertoli cells are clumped in the lumen of some aged seminiferous tubules, appearing to have lost their attachment to the basement membrane
• testes are smaller than those of wild type males
• testis to body weight ratio is significantly decreased
(J:46376)
• spermatogenesis is arrested at the early (step 3 or 4) round spermatid stage before any spermatid differentiation occurs (J:199573)
• however, spermatocytes show normal homologous chromosome synapsis and progression to the metaphase of first meiosis (J:199573)
• arrest at metaphase of meiosis I
• degenerating, sloughed germ cells and aggregated debris found in the lumen of efferent ductules in aged mice
• epididymal lumen is mostly empty of germ cells but some luminal debris is found with sporadic degenerating germ cells in aged mice
• perimplantation defects
(J:46376)
(J:199573)

respiratory system
• the alveolar septum is thick with congestion and lymphocyte and granulocyte infiltration is seen
• difficulty breathing before death




Genotype
MGI:2177804
hm3
Allelic
Composition
Bsgtm1Tmu/Bsgtm1Tmu
Genetic
Background
involves: 129/Sv * 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bsgtm1Tmu mutation (0 available); any Bsg mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• half of the mice that survive past implantation die before 1 month after birth due to interstitial pneumonia
• most embryos died at the peri-implantation stage

growth/size/body
• body weight of mice which die between 3 and 4 weeks is only 1/3 to 1/4 of that of control littermates at 3 weeks of age
• surviving males weigh about 2/3 of control males and females about 4/5 of control females

immune system
• the alveolar septum is thick with congestion and lymphocyte and granulocyte infiltration is seen

liver/biliary system
• liver appears anemic and microscopically shows vacuolar degeneration
• liver is slightly smaller

reproductive system
• no sperm found in testes or epididymis
• arrest at metaphase of meiosis I
• perimplantation defects

respiratory system
• the alveolar septum is thick with congestion and lymphocyte and granulocyte infiltration is seen
• difficulty breathing before death

cellular
• no sperm found in testes or epididymis





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/12/2024
MGI 6.23
The Jackson Laboratory