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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 (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
decreased B cell number ( J:35769 )
• decreased number of B220+ cells peripherally
decreased mature B cell number ( J:35769 )
• reduced numbers of mature IgM-IgD+ B cells
absent B-1a cells ( J:35769 )
• deficiency of CD5+ B cells in the peritoneum for B cells expressing both the mutant and the wild-type allele

hematopoietic system
decreased B cell number ( J:35769 )
• decreased number of B220+ cells peripherally
decreased mature B cell number ( J:35769 )
• reduced numbers of mature IgM-IgD+ B cells
absent B-1a cells ( J:35769 )
• 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 (78 available)
Btktm1Gsv mutation (0 available); any Btk mutation (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
abnormal B cell differentiation ( J:94768 )
• B cell development is completely blocked
decreased immature B cell number ( J:94768 )
• dramatic reductions of immature IgM+IgD- B cells in the bone marrow
decreased mature B cell number ( J:94768 )
• dramatic reductions of mature IgM+IgD+ B cells in the bone marrow
decreased IgG3 level ( J:94768 )
• IgG3 severely reduced
decreased IgM level ( J:94768 )
• severely reduced

neoplasm
increased B cell derived lymphoma incidence ( J:94768 )
• increased frequency of pre-B cell lymphomas

hematopoietic system
abnormal B cell differentiation ( J:94768 )
• B cell development is completely blocked
decreased immature B cell number ( J:94768 )
• dramatic reductions of immature IgM+IgD- B cells in the bone marrow
decreased mature B cell number ( J:94768 )
• dramatic reductions of mature IgM+IgD+ B cells in the bone marrow
decreased IgG3 level ( J:94768 )
• IgG3 severely reduced
decreased IgM level ( J:94768 )
• 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 (78 available)
Btktm1Gsv mutation (0 available); any Btk mutation (21 available)
Tg(CD19-BTK*K430R)XK24Rwhe mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
abnormal B cell differentiation ( J:94768 )
• 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
decreased IgG3 level ( J:94768 )
• IgG3 levels remain severely reduced
decreased IgM level ( J:94768 )
• improved or restored

neoplasm
neoplasm ( J:94768 )
N
• tumor suppressor function is restored

hematopoietic system
abnormal B cell differentiation ( J:94768 )
• 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
decreased IgG3 level ( J:94768 )
• IgG3 levels remain severely reduced
decreased IgM level ( J:94768 )
• 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 (21 available)
Tg(CD19-BTK*K430R)XK24Rwhe mutation (0 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
immune system phenotype ( J:94768 )
N
• calcium signaling of splenic B cells is restored
decreased B cell apoptosis ( J:120989 )
• B cell apoptosis is reduced compared to similar mice lacking the transgene
decreased B cell number ( J:120989 )
• restored B220+ cell numbers peripherally
absent B-1a cells ( J:120989 )
• deficiency of CD5+ B cells in the peritoneum remains
abnormal pre-B cell morphology ( J:120989 )
• differentiation is partially restored
decreased immunoglobulin level ( J:120989 )
• decreased lambda light chain usage

hematopoietic system
decreased B cell apoptosis ( J:120989 )
• B cell apoptosis is reduced compared to similar mice lacking the transgene
decreased B cell number ( J:120989 )
• restored B220+ cell numbers peripherally
absent B-1a cells ( J:120989 )
• deficiency of CD5+ B cells in the peritoneum remains
abnormal pre-B cell morphology ( J:120989 )
• differentiation is partially restored
decreased immunoglobulin level ( J:120989 )
• decreased lambda light chain usage

cellular
decreased B cell apoptosis ( J:120989 )
• 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 (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
abnormal B cell calcium ion homeostasis ( J:94768 )
• significantly reduced calcium signaling in splenic B cells

immune system
abnormal B cell differentiation ( J:35769 )
• development through to large pre-B cell stage is normal
• transition from pre-B to immature B cell is impaired
decreased immature B cell number ( J:35769 )
• reduced IgM+IgD- to about 70% of normal numbers at 5 weeks of age
decreased B cell number ( J:35769 )
• decreased number of B220+ cells peripherally
• thymocyte and T cell numbers are unaffected
absent mature B cells ( J:35769 )
• mature IgMlowIgDhigh are nearly absent
absent B-1a cells ( J:35769 )
• deficiency of CD5+ B cells in the peritoneum
abnormal B cell calcium ion homeostasis ( J:94768 )
• significantly reduced calcium signaling in splenic B cells
abnormal humoral immune response ( J:120989 )
• no response to T cell independent type II antigens
decreased immunoglobulin level ( J:120989 )
• decreased lambda light chain usage
decreased IgG3 level ( J:35769 )
• IgG3 reduced 20% at 5 weeks of age
decreased IgM level ( J:35769 )
• reduced 50% at 5 weeks of age

hematopoietic system
abnormal B cell differentiation ( J:35769 )
• development through to large pre-B cell stage is normal
• transition from pre-B to immature B cell is impaired
decreased immature B cell number ( J:35769 )
• reduced IgM+IgD- to about 70% of normal numbers at 5 weeks of age
decreased B cell number ( J:35769 )
• decreased number of B220+ cells peripherally
• thymocyte and T cell numbers are unaffected
absent mature B cells ( J:35769 )
• mature IgMlowIgDhigh are nearly absent
absent B-1a cells ( J:35769 )
• deficiency of CD5+ B cells in the peritoneum
abnormal B cell calcium ion homeostasis ( J:94768 )
• significantly reduced calcium signaling in splenic B cells
decreased immunoglobulin level ( J:120989 )
• decreased lambda light chain usage
decreased IgG3 level ( J:35769 )
• IgG3 reduced 20% at 5 weeks of age
decreased IgM level ( J:35769 )
• reduced 50% at 5 weeks of age

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
X-linked agammaglobulinemia DOID:14179 OMIM:300755
 J:35769




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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory