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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Pdia6em1Btlr
endonuclease-mediated mutation 1, Bruce Beutler
MGI:6456065
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Pdia6em1Btlr/Pdia6em1Btlr Not Specified MGI:6456546
ht2
 		Pdia6em1Btlr/Pdia6m1Btlr involves: C57BL/6J MGI:6456545


Genotype
MGI:6456546
hm1
Allelic
Composition		 Pdia6em1Btlr/Pdia6em1Btlr
Genetic
Background		 Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdia6em1Btlr mutation (0 available); any Pdia6 mutation (30 available)
♀ 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		 Pdia6em1Btlr/Pdia6m1Btlr
Genetic
Background		 involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pdia6em1Btlr mutation (0 available); any Pdia6 mutation (30 available)
Pdia6m1Btlr mutation (0 available); any Pdia6 mutation (30 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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
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 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
abnormal circulating cytokine level ( J:288824 )
• decreased adipokines

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
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
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 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




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09/30/2025
MGI 6.24 		The Jackson Laboratory