Phenotypes associated with this allele

• Allele Symbol: Bcl10^tm1Swm
• Allele Name: targeted mutation 1, Stephan W Morris
• Allele ID: MGI:2674989
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Bcl10^tm1Swm/Bcl10^tm1Swm	involves: 129P2/OlaHsd	MGI:2674990
hm2	Bcl10^tm1Swm/Bcl10^tm1Swm	involves: 129P2/OlaHsd * C57BL/6	MGI:3716871

Genotype
MGI:2674990

hm1

• Allelic Composition: Bcl10^tm1Swm/Bcl10^tm1Swm
• Genetic Background: involves: 129P2/OlaHsd

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

perinatal lethality, incomplete penetrance ( J:85147 )

• 30% die between E18.5 and birth because of exencephaly

nervous system

exencephaly ( J:85147 )

• incomplete penetrance, mice exhibiting exencephaly die in utero

hematopoietic system

decreased B cell proliferation ( J:85147 )

• decrease in follicular and marginal zone B cell proliferation

• proliferation of marginal zone B lymphocytes, but not follicular B cells, in response to stimulation with LPS is decreased compared to wild-type cells

abnormal B cell differentiation ( J:85147 )

• the conversion of transitional type 2 to mature follicular B cells is impaired, resulting in decreases in marginal zone and B1 B cells

decreased B cell number ( J:85147 )

• population of total B cells (B220+) is decreased in bone marrow and spleen

decreased mature B cell number ( J:85147 )

• population of recirculating mature B cells (IgM+B200^hi) is decreased in bone marrow

decreased B-1 B cell number ( J:85147 )

decreased follicular B cell number ( J:85147 )

• decrease in mature follicular B cells due to impaired transition from type 2 to mature follicular B cells

decreased marginal zone B cell number ( J:85147 )

abnormal marginal zone B cell physiology ( J:85147 )

• marginal zone B cells are unable to capture TNP-Ficoll, a T cell-independent antigen

• marginal zone B cells fail to activate NF-kappaB efficiently after stimulation with lipopolysaccharide (LPS)

immune system

decreased B cell proliferation ( J:85147 )

• decrease in follicular and marginal zone B cell proliferation

• proliferation of marginal zone B lymphocytes, but not follicular B cells, in response to stimulation with LPS is decreased compared to wild-type cells

abnormal B cell differentiation ( J:85147 )

• the conversion of transitional type 2 to mature follicular B cells is impaired, resulting in decreases in marginal zone and B1 B cells

decreased B cell number ( J:85147 )

• population of total B cells (B220+) is decreased in bone marrow and spleen

decreased mature B cell number ( J:85147 )

• population of recirculating mature B cells (IgM+B200^hi) is decreased in bone marrow

decreased B-1 B cell number ( J:85147 )

decreased follicular B cell number ( J:85147 )

• decrease in mature follicular B cells due to impaired transition from type 2 to mature follicular B cells

decreased marginal zone B cell number ( J:85147 )

abnormal marginal zone B cell physiology ( J:85147 )

• marginal zone B cells are unable to capture TNP-Ficoll, a T cell-independent antigen

• marginal zone B cells fail to activate NF-kappaB efficiently after stimulation with lipopolysaccharide (LPS)

abnormal humoral immune response ( J:85147 )

• failure to initiate humoral responses leading to an inability to clear blood-borne bacteria

• fail to produce any TNP-specific antibodies in response to either TNP-Ficoll (T cell-independent antigen) or TNP-KLH (T cell-dependent antigen)

increased susceptibility to bacterial infection ( J:85147 )

• mutants are unable to efficiently clear S. pneumoniae bacteria from the bloodstream and die within 12 days of infection

cellular

decreased B cell proliferation ( J:85147 )

• decrease in follicular and marginal zone B cell proliferation

• proliferation of marginal zone B lymphocytes, but not follicular B cells, in response to stimulation with LPS is decreased compared to wild-type cells

Genotype
MGI:3716871

hm2

• Allelic Composition: Bcl10^tm1Swm/Bcl10^tm1Swm
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

immune system

abnormal dendritic cell physiology ( J:122394 )

• stimulation of bone marrow-derived dendritic cells with antibodies specific for ITAM or zymosan receptors, cytokine production is significantly impaired

• in response to Toll-like receptor ligands, production of TNF and Il-6 is much lower than in wild-type

abnormal cytokine secretion ( J:122394 )