All Phenotypes Bsg<tm1Tmu> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Bsg^tm1Tmu/Bsg^tm1Tmu	involves: 129S2/SvPas	MGI:6430297
hm2	Bsg^tm1Tmu/Bsg^tm1Tmu	involves: 129S2/SvPas * C57BL/6J	MGI:2177803
hm3	Bsg^tm1Tmu/Bsg^tm1Tmu	involves: 129/Sv * 129S2/SvPas	MGI:2177804

Allelic Composition	Bsg^tm1Tmu/Bsg^tm1Tmu
Genetic Background	involves: 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bsg^tm1Tmu mutation (0 available); any Bsg mutation (17 available)

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

immune system

increased spleen weight ( J:287636 )

• pristane-treated mice show increased spleen:body weight ratio at 6 months post-treatment

increased T-helper 17 cell number ( J:287636 )

• 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

increased splenocyte number ( J:287636 )

• pristane-treated mice show increased total number of splenocytes at 6 months post-treatment

decreased circulating complement protein level ( J:287636 )

• serum levels of C3 are decreased in pristane-treated mice compared to treated controls

increased susceptibility to systemic lupus erythematosus ( J:287636 )

• 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

glomerulonephritis ( J:287636 )

• pristane-treated mice show more severe and diffuse glomerulonephritis compared to treated controls

renal/urinary system

increased kidney weight ( J:287636 )

• mice with pristane-induced lupus nephritis show an increased kidney to body weight ratio at 6 months post-induction

albuminuria ( J:287636 )

• albuminuria is increased in pristane-treated mice

• pristane-treated mice injected with an anti-IL-17 antibody show amelioration of albuminuria

abnormal renal glomerulus morphology ( J:287636 )

• 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

increased mesangial cell number ( J:287636 )

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

glomerulonephritis ( J:287636 )

• pristane-treated mice show more severe and diffuse glomerulonephritis compared to treated controls

expanded mesangial matrix ( J:287636 )

• pristane-treated mice show more severe matrix expansion than treated controls

homeostasis/metabolism

decreased circulating complement protein level ( J:287636 )

• serum levels of C3 are decreased in pristane-treated mice compared to treated controls

albuminuria ( J:287636 )

• albuminuria is increased in pristane-treated mice

• pristane-treated mice injected with an anti-IL-17 antibody show amelioration of albuminuria

hematopoietic system

increased spleen weight ( J:287636 )

• pristane-treated mice show increased spleen:body weight ratio at 6 months post-treatment

increased T-helper 17 cell number ( J:287636 )

• 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

increased splenocyte number ( J:287636 )

• pristane-treated mice show increased total number of splenocytes at 6 months post-treatment

cellular

increased mesangial cell number ( J:287636 )

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

growth/size/body

increased kidney weight ( J:287636 )

• mice with pristane-induced lupus nephritis show an increased kidney to body weight ratio at 6 months post-induction

increased spleen weight ( J:287636 )

• pristane-treated mice show increased spleen:body weight ratio at 6 months post-treatment

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

nervous system

absent retina cone cells ( J:64198 )

absent retina rod cells ( J:64198 )

short photoreceptor outer segment ( J:64198 )

• at 35 weeks of age, the length of the outer segment was reduced to less than half of the normal length

disorganized photoreceptor outer segment ( J:64198 )

• 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

retina photoreceptor degeneration ( J:64198 )

• at 43 weeks of age, most photoreceptor cells were absent from the retina

endocrine/exocrine glands

abnormal testis morphology ( J:199573 )

• 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

abnormal seminiferous tubule morphology ( J:199573 )

• seminiferous tubular lumen size is 65% smaller than that of wild type testes

abnormal seminiferous tubule epithelium morphology ( J:199573 )

• 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

abnormal Sertoli cell barrier morphology ( J:199573 )

• 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

ectopic Sertoli cells ( J:199573 )

• Sertoli cells are clumped in the lumen of some aged seminiferous tubules, appearing to have lost their attachment to the basement membrane

small testis ( J:199573 )

• testes are smaller than those of wild type males

decreased testis weight ( J:199573 )

• testis to body weight ratio is significantly decreased

cellular

abnormal spermatocyte morphology ( J:199573 )

• abnormal chromatin patterns, with micronuclear formation, in pachytene spermatocytes

• increased numbers of spermatocytes with pyknotic nuclei

decreased male germ cell number ( J:199573 )

• decrease in the number of spermatogenic cells with complete loss of elongated spermatids and mature spermatozoa

azoospermia ( J:46376 , J:199573 )

• no sperm found in the testis or epididymis (J:46376)

(J:199573)

multinucleated giant male germ cells ( J:199573 )

• both pachytene spermatocytes and round spermatids form multinucleated giant cells, unlike in wild type testes

arrest of male meiosis ( J:46376 )

• arrest at metaphase of meiosis I

increased male germ cell apoptosis ( J:199573 )

• marked increase in the number of apoptotic spermatocytes per seminiferous tubule, as revealed by TUNEL analysis

mortality/aging

postnatal lethality, incomplete penetrance ( J:46376 )

• half of the mice that survive past implantation die before 1 month after birth due to interstitial pneumonia

embryonic lethality at implantation, incomplete penetrance ( J:46376 )

• most embryos die around the peri-implantation stage

vision/eye

vision/eye phenotype ( J:64198 )

N	• appearance of the fundus at 40 weeks of age of the homozygous mice did not differ significantly from that of the controla

absent retina cone cells ( J:64198 )

absent retina rod cells ( J:64198 )

short photoreceptor outer segment ( J:64198 )

• at 35 weeks of age, the length of the outer segment was reduced to less than half of the normal length

disorganized photoreceptor outer segment ( J:64198 )

• 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

retina photoreceptor degeneration ( J:64198 )

• at 43 weeks of age, most photoreceptor cells were absent from the retina

thin retina outer nuclear layer ( J:64198 )

• thickness of the outer nuclear layer was reduced to four layers

increased susceptibility to age-related retinal degeneration ( J:64198 )

• the neural retina degenerated progressively with age with the characteristic changes observed in photoreceptor cell layer

increased b-wave latency ( J:64198 )

• 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

decreased b-wave amplitude ( J:64198 )

• 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

abnormal cone electrophysiology ( J:64198 )

abnormal rod electrophysiology ( J:64198 )

growth/size/body

decreased body weight ( J:46376 )

• 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

interstitial pneumonia ( J:46376 )

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

liver/biliary system

abnormal liver morphology ( J:46376 )

• liver appears anemic and microscopically shows vacuolar degeneration

small liver ( J:46376 )

• liver is slightly smaller

reproductive system

abnormal spermatocyte morphology ( J:199573 )

• abnormal chromatin patterns, with micronuclear formation, in pachytene spermatocytes

• increased numbers of spermatocytes with pyknotic nuclei

decreased male germ cell number ( J:199573 )

• decrease in the number of spermatogenic cells with complete loss of elongated spermatids and mature spermatozoa

azoospermia ( J:46376 , J:199573 )

• no sperm found in the testis or epididymis (J:46376)

(J:199573)

multinucleated giant male germ cells ( J:199573 )

• both pachytene spermatocytes and round spermatids form multinucleated giant cells, unlike in wild type testes

increased male germ cell apoptosis ( J:199573 )

• marked increase in the number of apoptotic spermatocytes per seminiferous tubule, as revealed by TUNEL analysis

abnormal testis morphology ( J:199573 )

abnormal seminiferous tubule morphology ( J:199573 )

• seminiferous tubular lumen size is 65% smaller than that of wild type testes

abnormal seminiferous tubule epithelium morphology ( J:199573 )

• 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

abnormal Sertoli cell barrier morphology ( J:199573 )

• expression of CDH2 (aka N-cadherin) is greatly reduced in the basal compartment of the seminiferous tubules at the site of the BTB

ectopic Sertoli cells ( J:199573 )

• Sertoli cells are clumped in the lumen of some aged seminiferous tubules, appearing to have lost their attachment to the basement membrane

small testis ( J:199573 )

• testes are smaller than those of wild type males

decreased testis weight ( J:199573 )

• testis to body weight ratio is significantly decreased

arrest of spermatogenesis ( J:46376 , J:199573 )

(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 of male meiosis ( J:46376 )

• arrest at metaphase of meiosis I

abnormal efferent ductules of testis morphology ( J:199573 )

• degenerating, sloughed germ cells and aggregated debris found in the lumen of efferent ductules in aged mice

abnormal epididymis morphology ( J:199573 )

• epididymal lumen is mostly empty of germ cells but some luminal debris is found with sporadic degenerating germ cells in aged mice

female infertility ( J:46376 )

• perimplantation defects

male infertility ( J:46376 , J:199573 )

(J:46376)

(J:199573)

respiratory system

interstitial pneumonia ( J:46376 )

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

respiratory distress ( J:46376 )

• difficulty breathing before death

Allelic Composition	Bsg^tm1Tmu/Bsg^tm1Tmu
Genetic Background	involves: 129/Sv * 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bsg^tm1Tmu mutation (0 available); any Bsg mutation (17 available)

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:46376 )

• half of the mice that survive past implantation die before 1 month after birth due to interstitial pneumonia

embryonic lethality at implantation, incomplete penetrance ( J:46376 )

• most embryos died at the peri-implantation stage

growth/size/body

decreased body weight ( J:46376 )

• 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

interstitial pneumonia ( J:46376 )

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

liver/biliary system

abnormal liver morphology ( J:46376 )

• liver appears anemic and microscopically shows vacuolar degeneration

small liver ( J:46376 )

• liver is slightly smaller

reproductive system

abnormal spermatogenesis ( J:46376 )

azoospermia ( J:46376 )

• no sperm found in testes or epididymis

arrest of male meiosis ( J:46376 )

• arrest at metaphase of meiosis I

female infertility ( J:46376 )

• perimplantation defects

male infertility ( J:46376 )

respiratory system

interstitial pneumonia ( J:46376 )

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

respiratory distress ( J:46376 )

• difficulty breathing before death

cellular

azoospermia ( J:46376 )

• no sperm found in testes or epididymis

arrest of male meiosis ( J:46376 )

• arrest at metaphase of meiosis I

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