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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Btktm1Gsv
targeted mutation 1, Frank Grosveld
MGI:2449487
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
Btktm1Gsv/Btk+ involves: 129P2/OlaHsd * C57BL/6 MGI:3709376
cx2
Blnktm1Pjln/Blnktm1Pjln
Btktm1Gsv/Y
involves: 129P2/OlaHsd * BALB/c * C57BL/6 MGI:3709377
cx3
Blnktm1Pjln/Blnktm1Pjln
Btktm1Gsv/Y
Tg(CD19-BTK*K430R)XK24Rwhe/?
involves: 129P2/OlaHsd * BALB/c * C57BL/6 * FVB MGI:3709379
cx4
Btktm1Gsv/Y
Tg(CD19-BTK*K430R)XK24Rwhe/?
involves: 129P2/OlaHsd * C57BL/6 * FVB MGI:3709381
ot5
Btktm1Gsv/Y involves: 129P2/OlaHsd * C57BL/6 MGI:2449488


Genotype
MGI:3709376
ht1
Allelic
Composition
Btktm1Gsv/Btk+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Btktm1Gsv mutation (0 available); any Btk mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• decreased number of B220+ cells peripherally
• reduced numbers of mature IgM-IgD+ B cells
• deficiency of CD5+ B cells in the peritoneum for B cells expressing both the mutant and the wild-type allele

hematopoietic system
• decreased number of B220+ cells peripherally
• reduced numbers of mature IgM-IgD+ B cells
• deficiency of CD5+ B cells in the peritoneum for B cells expressing both the mutant and the wild-type allele




Genotype
MGI:3709377
cx2
Allelic
Composition
Blnktm1Pjln/Blnktm1Pjln
Btktm1Gsv/Y
Genetic
Background
involves: 129P2/OlaHsd * BALB/c * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Blnktm1Pjln mutation (0 available); any Blnk mutation (58 available)
Btktm1Gsv mutation (0 available); any Btk mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• B cell development is completely blocked
• dramatic reductions of immature IgM+IgD- B cells in the bone marrow
• dramatic reductions of mature IgM+IgD+ B cells in the bone marrow
• IgG3 severely reduced
• severely reduced

neoplasm
• increased frequency of pre-B cell lymphomas

hematopoietic system
• B cell development is completely blocked
• dramatic reductions of immature IgM+IgD- B cells in the bone marrow
• dramatic reductions of mature IgM+IgD+ B cells in the bone marrow
• IgG3 severely reduced
• severely reduced




Genotype
MGI:3709379
cx3
Allelic
Composition
Blnktm1Pjln/Blnktm1Pjln
Btktm1Gsv/Y
Tg(CD19-BTK*K430R)XK24Rwhe/?
Genetic
Background
involves: 129P2/OlaHsd * BALB/c * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Blnktm1Pjln mutation (0 available); any Blnk mutation (58 available)
Btktm1Gsv mutation (0 available); any Btk mutation (10 available)
Tg(CD19-BTK*K430R)XK24Rwhe mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• B cell development is partially restored, by about 4-7 fold
• some differentiation into mature B cells occurs
• recirculationg B cell population in the bone marrow is improved
• IgG3 levels remain severely reduced
• improved or restored

neoplasm
N
• tumor suppressor function is restored

hematopoietic system
• B cell development is partially restored, by about 4-7 fold
• some differentiation into mature B cells occurs
• recirculationg B cell population in the bone marrow is improved
• IgG3 levels remain severely reduced
• improved or restored




Genotype
MGI:3709381
cx4
Allelic
Composition
Btktm1Gsv/Y
Tg(CD19-BTK*K430R)XK24Rwhe/?
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Btktm1Gsv mutation (0 available); any Btk mutation (10 available)
Tg(CD19-BTK*K430R)XK24Rwhe mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
N
• calcium signaling of splenic B cells is restored
• B cell apoptosis is reduced compared to similar mice lacking the transgene
• restored B220+ cell numbers peripherally
• deficiency of CD5+ B cells in the peritoneum remains
• differentiation is partially restored
• decreased lambda light chain usage

hematopoietic system
• B cell apoptosis is reduced compared to similar mice lacking the transgene
• restored B220+ cell numbers peripherally
• deficiency of CD5+ B cells in the peritoneum remains
• differentiation is partially restored
• decreased lambda light chain usage

cellular
• B cell apoptosis is reduced compared to similar mice lacking the transgene




Genotype
MGI:2449488
ot5
Allelic
Composition
Btktm1Gsv/Y
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Btktm1Gsv mutation (0 available); any Btk mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• development through to large pre-B cell stage is normal
• transition from pre-B to immature B cell is impaired
• decreased number of B220+ cells peripherally
• thymocyte and T cell numbers are unaffected
• reduced IgM+IgD- to about 70% of normal numbers at 5 weeks of age
• mature IgMlowIgDhigh are nearly absent
• deficiency of CD5+ B cells in the peritoneum
• significantly reduced calcium signaling in splenic B cells
• decreased lambda light chain usage
• IgG3 reduced 20% at 5 weeks of age
• reduced 50% at 5 weeks of age
• no response to T cell independent type II antigens

hematopoietic system
• development through to large pre-B cell stage is normal
• transition from pre-B to immature B cell is impaired
• reduced IgM+IgD- to about 70% of normal numbers at 5 weeks of age
• decreased number of B220+ cells peripherally
• thymocyte and T cell numbers are unaffected
• mature IgMlowIgDhigh are nearly absent
• deficiency of CD5+ B cells in the peritoneum
• significantly reduced calcium signaling in splenic B cells
• decreased lambda light chain usage
• IgG3 reduced 20% at 5 weeks of age
• reduced 50% at 5 weeks of age

Mouse Models of Human Disease
OMIM ID Ref(s)
Agammaglobulinemia, X-Linked; XLA 300755 J:35769





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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory