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Ergtm1.1Path
Targeted Allele Detail
Nomenclature
Symbol: Ergtm1.1Path
Name: ETS transcription factor; targeted mutation 1.1, Patricia A Thistlethwaite
MGI ID: MGI:5775397
Gene: Erg  Location: Chr16:95359169-95586593 bp, - strand  Genetic Position: Chr16, 56.04 cM
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 detailsTwo 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
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 6 anatomical structures
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:  2 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
12/03/2019
MGI 6.14
The Jackson Laboratory