Phenotypes associated with this allele

• Allele Symbol: Pdia6^em1Btlr
• Allele Name: endonuclease-mediated mutation 1, Bruce Beutler
• Allele ID: MGI:6456065
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pdia6^em1Btlr/Pdia6^em1Btlr	Not Specified	MGI:6456546
ht2	Pdia6^em1Btlr/Pdia6^m1Btlr	involves: C57BL/6J	MGI:6456545

Genotype
MGI:6456546

hm1

• Allelic Composition: Pdia6^em1Btlr/Pdia6^em1Btlr
• Genetic Background: Not Specified

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

mortality/aging

preweaning lethality, complete penetrance ( J:288824 )

• no mice are produced from breeding heterozygotes

Genotype
MGI:6456545

ht2

• Allelic Composition: Pdia6^em1Btlr/Pdia6^m1Btlr
• Genetic Background: involves: C57BL/6J

immune system

thymus hypoplasia ( J:288824 )

• age-dependent and progressive after 6 weeks of age

increased mature B cell number ( J:288824 )

• increased mature recirculating B cells

increased marginal zone B cell number ( J:288824 )

increased marginal zone precursor B cell number ( J:288824 )

decreased leukocyte cell number ( J:288824 )

• age-dependent and progressive after 6 weeks of age

decreased lymphocyte cell number ( J:288824 )

• age-dependent and progressive after 6 weeks of age

decreased double-negative T cell number ( J:288824 )

• in total numbers (with a decrease in frequency)

decreased double-positive T cell number ( J:288824 )

• in total numbers (with a increase in frequency)

decreased B cell number ( J:288824 )

• decreased total B cells

• however, the number of B1-cells in the peritoneal is normal

decreased transitional stage B cell number ( J:288824 )

decreased follicular B cell number ( J:288824 )

decreased pre-B cell number ( J:288824 )

decreased NK T cell number ( J:288824 )

• reduced frequency of natural killer and NK1.1+ T cells

decreased monocyte cell number ( J:288824 )

• age-dependent and progressive after 6 weeks of age

spleen hypoplasia ( J:288824 )

• age-dependent and progressive after 6 weeks of age

abnormal T cell physiology ( J:288824 )

• reduced T cell-independent (TI) antibody responses to NP-Ficoll

• moderate reduction in T cell-dependent antibody responses to aluminum hydroxide-precipitated ovalbumin

abnormal circulating cytokine level ( J:288824 )

• decreased adipokines

growth/size/body

decreased body size ( J:288824 )

decreased body weight ( J:288824 )

homeostasis/metabolism

increased fasting circulating glucose level ( J:288824 )

• as early as 4 to 6 weeks

decreased circulating insulin level ( J:288824 )

• in fasted mice

decreased circulating insulin-like growth factor I level ( J:288824 )

decreased circulating triglyceride level ( J:288824 )

abnormal circulating cytokine level ( J:288824 )

• decreased adipokines

insulin resistance ( J:288824 )

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:288824 )

N • mice exhibit normal islet architecture

thymus hypoplasia ( J:288824 )

• age-dependent and progressive after 6 weeks of age

hematopoietic system

hematopoietic system phenotype ( J:288824 )

N • mice exhibit normal neutrophil numbers

thymus hypoplasia ( J:288824 )

• age-dependent and progressive after 6 weeks of age

decreased common myeloid progenitor cell number ( J:288824 )

increased granulocyte monocyte progenitor cell number ( J:288824 )

decreased common lymphocyte progenitor cell number ( J:288824 )

thrombocytopenia ( J:288824 )

• decreased CD11c+ or CD11b+ myeloid cells

• age-dependent and progressive after 6 weeks of age

increased mature B cell number ( J:288824 )

• increased mature recirculating B cells

increased marginal zone B cell number ( J:288824 )

increased marginal zone precursor B cell number ( J:288824 )

decreased leukocyte cell number ( J:288824 )

• age-dependent and progressive after 6 weeks of age

decreased lymphocyte cell number ( J:288824 )

• age-dependent and progressive after 6 weeks of age

decreased double-negative T cell number ( J:288824 )

• in total numbers (with a decrease in frequency)

decreased double-positive T cell number ( J:288824 )

• in total numbers (with a increase in frequency)

decreased B cell number ( J:288824 )

• decreased total B cells

• however, the number of B1-cells in the peritoneal is normal

decreased transitional stage B cell number ( J:288824 )

decreased follicular B cell number ( J:288824 )

decreased pre-B cell number ( J:288824 )

decreased NK T cell number ( J:288824 )

• reduced frequency of natural killer and NK1.1+ T cells

decreased monocyte cell number ( J:288824 )

• age-dependent and progressive after 6 weeks of age

decreased hematopoietic stem cell number ( J:288824 )

• decreased proportion of LSK+ cells with increase in long-term and short-term hematopoietic stem cells

spleen hypoplasia ( J:288824 )

• age-dependent and progressive after 6 weeks of age

abnormal T cell physiology ( J:288824 )

• reduced T cell-independent (TI) antibody responses to NP-Ficoll

• moderate reduction in T cell-dependent antibody responses to aluminum hydroxide-precipitated ovalbumin