Pld3^em1Nemz
Endonuclease-mediated Allele Detail

Summary

• Symbol: Pld3^em1Nemz
• Name: phospholipase D family member 3; endonuclease-mediated mutation 1, David Nemazeez
• MGI ID: MGI:6451776
• Synonyms: Pld3^-
• Gene: Pld3 Location: Chr7:27231425-27252643 bp, - strand Genetic Position: Chr7, 15.92 cM
• Alliance: Pld3^em1Nemz page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Insertion
• Mutation details: Exon 9 was targeted with a gRNA (5'-GGACTGGCGGTCGCTGACCC-3') using CRISPR/Cas9 technology. This allele represents founder line 7 which has a 1 bp insertion in exon 9: ATGGACTGGCGGTCGCTGAaCCCAG (insertion in lower case). (J:281205)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Pld3^em1Nemz/Pld3^em1Nemz	C57BL/6J-Pld3^em1Nemz
cx2	Pld3^em1Nemz/Pld3^em1Nemz Pld4^tm1.2Nemz/Pld4^tm1.2Nemz	B6.Cg-Pld3^em1Nemz Pld4^tm1.1Nemz

Phenotypes:

Affected Systems	hm1	cx2
show or hide all annotated terms
growth/size/body		√
decreased birth body size		√
hematopoietic system	N	√
hematopoietic system phenotype	N
hemophagocytosis		√
homeostasis/metabolism		√
homeostasis/metabolism phenotype		N
abnormal circulating chemokine level		√
increased circulating CXCL10 level		√
increased circulating interferon-gamma level		√
increased circulating tumor necrosis factor level		√
increased circulating ferritin level		√
immune system	√	√
immune system phenotype	N
hemophagocytosis		√
abnormal circulating chemokine level		√
increased circulating CXCL10 level		√
increased circulating interferon-gamma level		√
increased circulating tumor necrosis factor level		√
increased interleukin-6 secretion	√
liver inflammation		√
liver/biliary system		√
liver inflammation		√
hepatic steatosis		√
mortality/aging		√
preweaning lethality, complete penetrance		√

View phenotypes and curated references for all genotypes (concatenated display).

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Pld3 Mutation: 81 strains or lines available

References

• Original: J:281205 Gavin AL, et al., PLD3 and PLD4 are single-stranded acid exonucleases that regulate endosomal nucleic-acid sensing. Nat Immunol. 2018 Sep;19(9):942-953
• All: 2 reference(s)