Erg^tm1.1Path
Targeted Allele Detail

Summary

• Symbol: Erg^tm1.1Path
• Name: ETS transcription factor; targeted mutation 1.1, Patricia A Thistlethwaite
• MGI ID: MGI:5775397
• Gene: Erg Location: Chr16:95160028-95387452 bp, - strand Genetic Position: Chr16, 56.04 cM
• Alliance: Erg^tm1.1Path page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:227456
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Two loxP sites were inserted into introns flanking exon 3. Deletion of exon 3 via cre-mediated recombination results in the removal of amino acid resides 14-86, while also introducing a frameshift mutation that creates a new stop codon at the point of deletion. Western blot confirmed absence of protein in lung tissue. (J:227456)

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	Erg^tm1.1Path/Erg^tm1.1Path	Not Specified

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms
cardiovascular system	√
abnormal vein morphology	√
abnormal venule morphology	√
venoocclusion	√
heart right ventricle hypertrophy	√
lung hemorrhage	√
increased right ventricle systolic pressure	√
pulmonary hypertension	√
increased vascular endothelial cell proliferation	√
cellular	√
increased vascular endothelial cell proliferation	√
growth/size/body	√
heart right ventricle hypertrophy	√
hematopoietic system	√
pancytopenia	√
homeostasis/metabolism	√
pulmonary edema	√
mortality/aging	√
lethality, complete penetrance	√
muscle	√
heart right ventricle hypertrophy	√
respiratory system	√
lung hemorrhage	√
pulmonary edema	√

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

Expression

In Structures Affected by this Mutation:

7 anatomical structure(s)

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 Erg Mutation: 27 strains or lines available

Notes

Phenotypic Similarity to Human Syndrome: Pulmonary Venoocclusive Disease J:227456.

References

• Original: J:227456 Lathen C, et al., ERG-APLNR axis controls pulmonary venule endothelial proliferation in pulmonary veno-occlusive disease. Circulation. 2014 Sep 30;130(14):1179-91
• All: 1 reference(s)