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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Srsf2tm1Xdfu
targeted mutation 1, Xiang Dong Fu
MGI:3036846
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Myl2tm1(cre)Krc/Myl2+
Srsf2tm1Xdfu/Srsf2tm1Xdfu
involves: 129S4/SvJae MGI:3037209
cn2
Srsf2tm1Xdfu/Srsf2+
Tg(Lck-cre)I57Jxm/?
involves: 129S4/SvJae * 129X1/SvJ * ICR MGI:3037204
cn3
Srsf2tm1Xdfu/Srsf2tm1Xdfu
Tg(Lck-cre)I57Jxm/?
involves: 129S4/SvJae * 129X1/SvJ * ICR MGI:3037198
cn4
Srsf2tm1Xdfu/Srsf2tm1Xdfu
Tg(Mx1-cre)1Cgn/?
involves: 129S4/SvJae * C57BL/6J * CBA/J MGI:5695464


Genotype
MGI:3037209
cn1
Allelic
Composition
Myl2tm1(cre)Krc/Myl2+
Srsf2tm1Xdfu/Srsf2tm1Xdfu
Genetic
Background
involves: 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Myl2tm1(cre)Krc mutation (2 available); any Myl2 mutation (22 available)
Srsf2tm1Xdfu mutation (1 available); any Srsf2 mutation (11 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• life span is normal except that pregnancy-induced mortality is seen

cardiovascular system
N
• deletion had little affect on cardiomyocyte proliferation or viability
• mutants have a normal heart rate, interventricular septum thickness, and left ventricular posterior wall thickness
• extensive fibrosis and myofibril disarray are evident by trichome staining in older mice
• mutant hearts appear normal initially and become enlarged 5 weeks after birth
• increasing workload and stress results in manifestation of a latent defect in cardiac function
• mutants have a severe contraction defect
• both left ventricular end-diastolic dimensions and end-systolic dimensions are markedly increased 5 to 6 weeks after birth
• the percent fractional shortening and mean velocity of circumferential fiber shortening (indicators of systolic cardiac function) are severely reduced
• in isolated cardiomyocytes resting intracellular and diastolic Ca2+ is normal however, with increasing pacing frequencies a significant decrease in both Ca2+ transients and cell contraction are detected
• defects in Ca2+ relaxation kinetics and reduced Ca2+ transients would weaken the excitation-contraction coupling in response to increasing workload

muscle
• mutant hearts appear normal initially and become enlarged 5 weeks after birth
• increasing workload and stress results in manifestation of a latent defect in cardiac function
• mutants have a severe contraction defect
• both left ventricular end-diastolic dimensions and end-systolic dimensions are markedly increased 5 to 6 weeks after birth
• the percent fractional shortening and mean velocity of circumferential fiber shortening (indicators of systolic cardiac function) are severely reduced
• in isolated cardiomyocytes resting intracellular and diastolic Ca2+ is normal however, with increasing pacing frequencies a significant decrease in both Ca2+ transients and cell contraction are detected
• defects in Ca2+ relaxation kinetics and reduced Ca2+ transients would weaken the excitation-contraction coupling in response to increasing workload

cellular
• extensive fibrosis and myofibril disarray are evident by trichome staining in older mice




Genotype
MGI:3037204
cn2
Allelic
Composition
Srsf2tm1Xdfu/Srsf2+
Tg(Lck-cre)I57Jxm/?
Genetic
Background
involves: 129S4/SvJae * 129X1/SvJ * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Srsf2tm1Xdfu mutation (1 available); any Srsf2 mutation (11 available)
Tg(Lck-cre)I57Jxm mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• a modest reduction in thymic weight is seen
• a modest reduction in the total number of thymocytes is seen

immune system
• a modest reduction in thymic weight is seen
• a modest reduction in the total number of thymocytes is seen

endocrine/exocrine glands
• a modest reduction in thymic weight is seen
• a modest reduction in the total number of thymocytes is seen




Genotype
MGI:3037198
cn3
Allelic
Composition
Srsf2tm1Xdfu/Srsf2tm1Xdfu
Tg(Lck-cre)I57Jxm/?
Genetic
Background
involves: 129S4/SvJae * 129X1/SvJ * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Srsf2tm1Xdfu mutation (1 available); any Srsf2 mutation (11 available)
Tg(Lck-cre)I57Jxm mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• in histological sections the cortical-medullary junction is absent
• the size and weight of the thymus is about 10% to 30% that in wild-types
• other peripheral lymphoid organs appear normal
• in T cells sorted by stage cells with the gene deleted are progressively eliminated
• splicing of CD45 is abnormal with a significant percentage of single positive and double positive T cells expressing CD45 isoforms missing exon 5
• the percentage of double-negative T cells could be elevated up to 40% of the total (compared to 6% in wild-type)
• T cell development is arrested at the CD44-CD25+ stage
• the absolute number of single positive T cells is greatly reduced
• a dramatic reduction in total thymocytes is seen
• the percentage of double-positive T cells could be decreased down to 50% of the total (compared to 85% in wild-type)
• the white pulp is paler than normal
• the absolute number of single positive T cells is significantly reduced
• none of the mature T cells found in the spleen have the gene deleted
• the spleen is otherwise unaffected

immune system
• in histological sections the cortical-medullary junction is absent
• the size and weight of the thymus is about 10% to 30% that in wild-types
• other peripheral lymphoid organs appear normal
• in T cells sorted by stage cells with the gene deleted are progressively eliminated
• splicing of CD45 is abnormal with a significant percentage of single positive and double positive T cells expressing CD45 isoforms missing exon 5
• the percentage of double-negative T cells could be elevated up to 40% of the total (compared to 6% in wild-type)
• T cell development is arrested at the CD44-CD25+ stage
• the percentage of double-positive T cells could be decreased down to 50% of the total (compared to 85% in wild-type)
• the absolute number of single positive T cells is greatly reduced
• a dramatic reduction in total thymocytes is seen
• the white pulp is paler than normal
• the absolute number of single positive T cells is significantly reduced
• none of the mature T cells found in the spleen have the gene deleted
• the spleen is otherwise unaffected

endocrine/exocrine glands
• in histological sections the cortical-medullary junction is absent
• the size and weight of the thymus is about 10% to 30% that in wild-types
• other peripheral lymphoid organs appear normal
• a dramatic reduction in total thymocytes is seen




Genotype
MGI:5695464
cn4
Allelic
Composition
Srsf2tm1Xdfu/Srsf2tm1Xdfu
Tg(Mx1-cre)1Cgn/?
Genetic
Background
involves: 129S4/SvJae * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Srsf2tm1Xdfu mutation (1 available); any Srsf2 mutation (11 available)
Tg(Mx1-cre)1Cgn mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• leukopenia is observed in bone marrow of lethally irritated recipient mice 18 weeks post-transplantation (pIpC injection 4 weeks after transplantation)
• anemia is observed 18 weeks post-bone marrow transplantation (pIpC injection 4 weeks after transplantation)
• hemoglobin is decreased donor bone marrow post-transplantation
• impaired reconstitution of hematopoietic stem/progenitor cells in peripheral blood in competitive bone marrow transplantation assay 14 weeks post-pIpC injection
• decrease in total hematopoietic stem cell (LSK) cell number in bone marrow in competitive bone marrow transplantation assay 14 weeks post-pIpC injection
• decrease in myeloid progenitor total cell number in bone marrow in competitive bone marrow transplantation assay 14 weeks post-pIpC injection
• bone marrow aplasia is observed 14 weeks post pIpC injection

immune system
• bone marrow aplasia is observed 14 weeks post pIpC injection





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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory