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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Btkxid
X linked immune deficiency
MGI:1856317
Summary 13 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Btkxid/Btkxid B6.CBA-Btkxid MGI:3836899
hm2
Btkxid/Btkxid CBA/CaHN-Btkxid/J MGI:3687743
hm3
Btkxid/Btkxid CBA/HN-Btkxid MGI:3687754
hm4
Btkxid/Btkxid involves: C57BL/6 * CBA MGI:3814825
hm5
Btkxid/Btkxid involves: CBA/HN * DBA/2N MGI:3687751
cx6
Btkxid/Btkxid
Ikzf3tm1Kge/Ikzf3tm1Kge
involves: 129S4/SvJae * CBA/CaHN MGI:4453853
cx7
Btkxid/Y
Ikzf3tm1Kge/Ikzf3tm1Kge
involves: 129S4/SvJae * CBA/CaHN MGI:4453854
cx8
Btkxid/?
Tg(IGH-Btk)1Witt/0
involves: BALB/c * C3H * C57BL/6 * CBA/N MGI:3836568
cx9
Btkxid/?
Tg(IGH-Btk)1Witt/Tg(IGH-Btk)1Witt
involves: BALB/c * C3H * C57BL/6 * CBA/N MGI:3836569
cx10
Btkxid/?
Ptpn6me/Ptpn6me
involves: C57BL/6J * CBA/N * NFS MGI:5314647
ot11
Btkxid/Y CBA/HN-Btkxid MGI:3687750
ot12
Btkxid/Y involves: CBA/HN * DBA/2N MGI:3687752
ot13
Btkxid/? involves: BALB/c * CBA/N MGI:3836566


Genotype
MGI:3836899
hm1
Allelic
Composition
Btkxid/Btkxid
Genetic
Background
B6.CBA-Btkxid
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Btkxid mutation (2 available); any Btk mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• homozygous female mice exhibit a 2-3 fold decrease in CD23+ AA4+ bone marrow B cells (T2, T3), numbers of CD23- AA4+ cells are consistent with control
• CD23+ AA4+ splenic B cell numbers are similar to control

hematopoietic system
• homozygous female mice exhibit a 2-3 fold decrease in CD23+ AA4+ bone marrow B cells (T2, T3), numbers of CD23- AA4+ cells are consistent with control
• CD23+ AA4+ splenic B cell numbers are similar to control




Genotype
MGI:3687743
hm2
Allelic
Composition
Btkxid/Btkxid
Genetic
Background
CBA/CaHN-Btkxid/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Btkxid mutation (2 available); any Btk mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• dextran sulfate sodium-induced colitis results in significant weight loss in wild-type mice by day 10 of DSS treatment while mutants do not exhibit any weight loss at that time
• number of monocytic and granulocytic-lineage cells is significantly reduced in mutant bone marrow
• frequency of monocytic/granulocytic precursors (myeloid CFUs) is significantly reduced compared to wild-type bone marrow
• total leukocyte numbers are not significantly altered compared to wild-type, but significantly reduced peripheral PMN frequency in blood is observed in mutants
• decrease in IgDhi IgMlo mature follicular B cells
• mutant polymorphonuclear leukocytes (PMNs) show poorer induction of reactive oxygen intermediates (ROIs) upon LPS stimulation compared to wild-type; NO production is significantly less in mutant PMNs
• phagocytic ability of PMNs is somewhat lower, but not significantly, compared to wild-type
• macrophages (adherent peritoneal exudates cells, PECs) stimulated with LPS show a reduced induction of ROIs than wild-type macrophages at all LPS concentrations
• mice show slower induction of experimental autoimmune encephalomyelitis (EAE) and milder clinical disease than wild-type mice
• peak footpad swelling in response to carrageenan injection is reduced compared to wild-type mice

hematopoietic system
• number of monocytic and granulocytic-lineage cells is significantly reduced in mutant bone marrow
• frequency of monocytic/granulocytic precursors (myeloid CFUs) is significantly reduced compared to wild-type bone marrow
• total leukocyte numbers are not significantly altered compared to wild-type, but significantly reduced peripheral PMN frequency in blood is observed in mutants
• decrease in IgDhi IgMlo mature follicular B cells
• mutant polymorphonuclear leukocytes (PMNs) show poorer induction of reactive oxygen intermediates (ROIs) upon LPS stimulation compared to wild-type; NO production is significantly less in mutant PMNs
• phagocytic ability of PMNs is somewhat lower, but not significantly, compared to wild-type
• macrophages (adherent peritoneal exudates cells, PECs) stimulated with LPS show a reduced induction of ROIs than wild-type macrophages at all LPS concentrations

digestive/alimentary system
• dextran sulfate sodium-induced colitis results in significant weight loss in wild-type mice by day 10 of DSS treatment while mutants do not exhibit any weight loss at that time

mortality/aging




Genotype
MGI:3687754
hm3
Allelic
Composition
Btkxid/Btkxid
Genetic
Background
CBA/HN-Btkxid
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Btkxid mutation (2 available); any Btk mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• incidence of small lymphocytes is slightly lower, but absolute population is not, compared to controls
• spleens have only ~22% immunoglobulin-bearing cells compared to ~50% in controls
• Background Sensitivity: numbers (22%) are less than female mutants on CBA/HN * DBA/2N background (40%)
• incidence of B lymphocytes is slightly lower, but absolute population is not, compared to controls
• incidence of pre-B cells is slightly reduced, but absolute population is comparable to controls
• number of nucleated spleen cells (~60 x 106/spleen) is significantly lower than in controls (~120 x 106/spleen)
• Background Sensitivity: females have significantly less than females on the CBA/HN * DBA/2N background which have (~90 x 106/spleen)
• cultured B cells show little response to B-cell mitogens LPS and poly I:C in comparison to wild-type cells
• Background Sensitivity: proliferative response in B cells from females is drastically lower than in cells from female mutants on CBA/HN * DBA/2N background
• mice do not develop autoantibodies (anti-dsDNA or any IgG antinuclear autoantibodies)

hematopoietic system
• incidence of small lymphocytes is slightly lower, but absolute population is not, compared to controls
• number of nucleated cells is higher in mutants than in controls
• spleens have only ~22% immunoglobulin-bearing cells compared to ~50% in controls
• Background Sensitivity: numbers (22%) are less than female mutants on CBA/HN * DBA/2N background (40%)
• incidence of B lymphocytes is slightly lower, but absolute population is not, compared to controls
• incidence of pre-B cells is slightly reduced, but absolute population is comparable to controls
• number of nucleated spleen cells (~60 x 106/spleen) is significantly lower than in controls (~120 x 106/spleen)
• Background Sensitivity: females have significantly less than females on the CBA/HN * DBA/2N background which have (~90 x 106/spleen)
• cultured B cells show little response to B-cell mitogens LPS and poly I:C in comparison to wild-type cells
• Background Sensitivity: proliferative response in B cells from females is drastically lower than in cells from female mutants on CBA/HN * DBA/2N background

Mouse Models of Human Disease
OMIM ID Ref(s)
Agammaglobulinemia, X-Linked; XLA 300755 J:81429




Genotype
MGI:3814825
hm4
Allelic
Composition
Btkxid/Btkxid
Genetic
Background
involves: C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Btkxid mutation (2 available); any Btk mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
N
• mucosal-associated invariant T cells (MAIT) that are not found in mice lacking all B cells are found in normal amounts in these mice (i.e. MAIT cells are not dependent on B1 B cells)




Genotype
MGI:3687751
hm5
Allelic
Composition
Btkxid/Btkxid
Genetic
Background
involves: CBA/HN * DBA/2N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Btkxid mutation (2 available); any Btk mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• spleens from females have ~40% immunoglobulin-bearing cells compared to ~50% in controls
• Background Sensitivity: numbers are greater in female mutants on CBA * C57BL/6 background (40%) than females on CBA/HN background (22%)
• number of nucleated spleen cells (~90 x 106/spleen) is significantly lower than in controls (~120 x 106/spleen)
• Background Sensitivity: females on the CBA * DBA/2J (~90 x 106/spleen) have significantly more nucleated spleen cells CBA/HN females (~60 x 106/spleen)
• spleen cells from unsensitized females cause 3-fold higher chromium release from H-2b antibody treated EL-4 tumor cells than splenocytes from males
• B cells show response to LPS and poly I:C similar to wild-type cells
• Background Sensitivity: proliferative response in B cells from females is much higher than in cells from female mutants on CBA/HN background

immune system
• spleens from females have ~40% immunoglobulin-bearing cells compared to ~50% in controls
• Background Sensitivity: numbers are greater in female mutants on CBA * C57BL/6 background (40%) than females on CBA/HN background (22%)
• number of nucleated spleen cells (~90 x 106/spleen) is significantly lower than in controls (~120 x 106/spleen)
• Background Sensitivity: females on the CBA * DBA/2J (~90 x 106/spleen) have significantly more nucleated spleen cells CBA/HN females (~60 x 106/spleen)
• spleen cells from unsensitized females cause 3-fold higher chromium release from H-2b antibody treated EL-4 tumor cells than splenocytes from males
• B cells show response to LPS and poly I:C similar to wild-type cells
• Background Sensitivity: proliferative response in B cells from females is much higher than in cells from female mutants on CBA/HN background

Mouse Models of Human Disease
OMIM ID Ref(s)
Agammaglobulinemia, X-Linked; XLA 300755 J:81429




Genotype
MGI:4453853
cx6
Allelic
Composition
Btkxid/Btkxid
Ikzf3tm1Kge/Ikzf3tm1Kge
Genetic
Background
involves: 129S4/SvJae * CBA/CaHN
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Btkxid mutation (2 available); any Btk mutation (10 available)
Ikzf3tm1Kge mutation (0 available); any Ikzf3 mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• decrease in IgDhi IgMlo mature follicular B cells, similar to that seen in single homozygous Btk mutant mice
• however, normal numbers of marginal zone B cells are observed

immune system
• decrease in IgDhi IgMlo mature follicular B cells, similar to that seen in single homozygous Btk mutant mice
• however, normal numbers of marginal zone B cells are observed




Genotype
MGI:4453854
cx7
Allelic
Composition
Btkxid/Y
Ikzf3tm1Kge/Ikzf3tm1Kge
Genetic
Background
involves: 129S4/SvJae * CBA/CaHN
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Btkxid mutation (2 available); any Btk mutation (10 available)
Ikzf3tm1Kge mutation (0 available); any Ikzf3 mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• decrease in IgDhi IgMlo mature follicular B cells, similar to that seen in single homozygous Btk mutant mice
• however, normal numbers of marginal zone B cells are observed

immune system
• decrease in IgDhi IgMlo mature follicular B cells, similar to that seen in single homozygous Btk mutant mice
• however, normal numbers of marginal zone B cells are observed




Genotype
MGI:3836568
cx8
Allelic
Composition
Btkxid/?
Tg(IGH-Btk)1Witt/0
Genetic
Background
involves: BALB/c * C3H * C57BL/6 * CBA/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Btkxid mutation (2 available); any Btk mutation (10 available)
Tg(IGH-Btk)1Witt mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• the percentage of peritoneal B220+CD5+ cells is decreased compared to wild-type controls but increased compared to mutant mice not carrying the transgene
• however, the frequency and number of splenic B cells are similar to wild-type controls
• less sensitive to anti-IgM induced proliferation compared to wild-type controls
• basal serum IgG3 levels are decreased compared to wild-type controls but increased compared to mutant mice not carrying the transgene
• serum levels of IgM following TNP-Ficoll treatment are reduced compared to wild-type controls
• basal serum IgM levels are decreased compared to wild-type controls but increased compared to mutant mice not carrying the transgene

hematopoietic system
• the percentage of peritoneal B220+CD5+ cells is decreased compared to wild-type controls but increased compared to mutant mice not carrying the transgene
• however, the frequency and number of splenic B cells are similar to wild-type controls
• less sensitive to anti-IgM induced proliferation compared to wild-type controls
• basal serum IgG3 levels are decreased compared to wild-type controls but increased compared to mutant mice not carrying the transgene
• serum levels of IgM following TNP-Ficoll treatment are reduced compared to wild-type controls
• basal serum IgM levels are decreased compared to wild-type controls but increased compared to mutant mice not carrying the transgene




Genotype
MGI:3836569
cx9
Allelic
Composition
Btkxid/?
Tg(IGH-Btk)1Witt/Tg(IGH-Btk)1Witt
Genetic
Background
involves: BALB/c * C3H * C57BL/6 * CBA/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Btkxid mutation (2 available); any Btk mutation (10 available)
Tg(IGH-Btk)1Witt mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• in most mice the percentage of peritoneal B220+CD5+ cells is decreased compared to wild-type controls but increased compared to mutant mice not carrying the transgene
• however, some mice had frequencies of B1 cells near the normal range
• the frequency and number of splenic B cells are similar to wild-type controls
• less sensitive to anti-IgM induced proliferation compared to wild-type controls but more responsive than mutant mice hemizygous for the transgene
• basal serum IgG3 levels are decreased compared to wild-type controls but increased compared to mutant mice not carrying the transgene
• serum levels of IgM following TNP-Ficoll treatment are reduced compared to wild-type controls
• basal serum IgM levels are decreased compared to wild-type controls but increased compared to mutant mice not carrying the transgene

hematopoietic system
• in most mice the percentage of peritoneal B220+CD5+ cells is decreased compared to wild-type controls but increased compared to mutant mice not carrying the transgene
• however, some mice had frequencies of B1 cells near the normal range
• the frequency and number of splenic B cells are similar to wild-type controls
• less sensitive to anti-IgM induced proliferation compared to wild-type controls but more responsive than mutant mice hemizygous for the transgene
• basal serum IgG3 levels are decreased compared to wild-type controls but increased compared to mutant mice not carrying the transgene
• serum levels of IgM following TNP-Ficoll treatment are reduced compared to wild-type controls
• basal serum IgM levels are decreased compared to wild-type controls but increased compared to mutant mice not carrying the transgene




Genotype
MGI:5314647
cx10
Allelic
Composition
Btkxid/?
Ptpn6me/Ptpn6me
Genetic
Background
involves: C57BL/6J * CBA/N * NFS
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Btkxid mutation (2 available); any Btk mutation (10 available)
Ptpn6me mutation (2 available); any Ptpn6 mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: life span about 8 weeks whereas on a C57BL/6 background survival is about 3 weeks

growth/size/body
• weigh about 66% of control weight

limbs/digits/tail
• autoamputation of 2-3 extremities by 8 weeks of age

integument
• cutaneous granulomatous lesions at 8 weeks

immune system
• lack of stimulatory effect of ConA
• increased secretion by splenocytes in culture
• serum levels considerably lower than Ptpn6me/me controls
• very slightly elevated relative to controls

cellular
• lack of stimulatory effect of ConA

hematopoietic system
• lack of stimulatory effect of ConA
• increased secretion by splenocytes in culture
• serum levels considerably lower than Ptpn6me/me controls




Genotype
MGI:3687750
ot11
Allelic
Composition
Btkxid/Y
Genetic
Background
CBA/HN-Btkxid
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Btkxid mutation (2 available); any Btk mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• spleens have only ~22% immunoglobulin-bearing cells compared to ~50% in controls
• number of nucleated spleen cells (~60 x 106/spleen) is significantly lower than in controls (~120 x 106/spleen)
• cultured B cells show little response to B-cell mitogens LPS and poly I:C in comparison to wild-type cells

hematopoietic system
• spleens have only ~22% immunoglobulin-bearing cells compared to ~50% in controls
• number of nucleated spleen cells (~60 x 106/spleen) is significantly lower than in controls (~120 x 106/spleen)
• cultured B cells show little response to B-cell mitogens LPS and poly I:C in comparison to wild-type cells

Mouse Models of Human Disease
OMIM ID Ref(s)
Agammaglobulinemia, X-Linked; XLA 300755 J:81429




Genotype
MGI:3687752
ot12
Allelic
Composition
Btkxid/Y
Genetic
Background
involves: CBA/HN * DBA/2N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Btkxid mutation (2 available); any Btk mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• spleens have only ~22% immunoglobulin-bearing cells compared to ~50% in controls
• number of nucleated spleen cells (~50 x 106/spleen) is significantly lower than in controls (~120 x 106/spleen)
• cultured B cells show little response to B-cell mitogens LPS and poly I:C in comparison to wild-type cells
• proliferative response occurs slightly later and is much lower in males than in females

immune system
• spleens have only ~22% immunoglobulin-bearing cells compared to ~50% in controls
• number of nucleated spleen cells (~50 x 106/spleen) is significantly lower than in controls (~120 x 106/spleen)
• cultured B cells show little response to B-cell mitogens LPS and poly I:C in comparison to wild-type cells
• proliferative response occurs slightly later and is much lower in males than in females

Mouse Models of Human Disease
OMIM ID Ref(s)
Agammaglobulinemia, X-Linked; XLA 300755 J:81429




Genotype
MGI:3836566
ot13
Allelic
Composition
Btkxid/?
Genetic
Background
involves: BALB/c * CBA/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Btkxid mutation (2 available); any Btk mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• the frequency and number of B cells are reduced in the spleen
• drastic reduction in the percentage of CD5+B220+ cells in the peritoneum
• no increase in proliferation is seen after BCR cross-linking
• serum levels of IgM following TNP-Ficoll treatment are reduced compared to wild-type controls
• basal serum IgM levels are decreased compared to wild-type controls

hematopoietic system
• the frequency and number of B cells are reduced in the spleen
• drastic reduction in the percentage of CD5+B220+ cells in the peritoneum
• no increase in proliferation is seen after BCR cross-linking
• serum levels of IgM following TNP-Ficoll treatment are reduced compared to wild-type controls
• basal serum IgM levels are decreased compared to wild-type controls





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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory