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Phenotypes Associated with This Genotype
Genotype
MGI:2449488
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 (12 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
DO ID OMIM ID(s) Ref(s)
Bruton-type agammaglobulinemia DOID:14179 OMIM:300310
OMIM:300755
J:35769


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
10/10/2017
MGI 6.10
The Jackson Laboratory