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Erftm2Gmav
Targeted Allele Detail
Summary
Symbol: Erftm2Gmav
Name: Ets2 repressor factor; targeted mutation 2, George Mavrothalassitis
MGI ID: MGI:5499177
Synonyms: ErfloxP
Gene: Erf  Location: Chr7:24941986-24950186 bp, - strand  Genetic Position: Chr7, 13.73 cM
Alliance: Erftm2Gmav page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:198059
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Conditional ready, Hypomorph)
Mutation:    Insertion
 
Mutation detailsA neomycin resistance cassette with a 5' loxP site was inserted upstream of the second coding exon. An additional loxP site was inserted downstream of the STOP codon in the fourth coding exon. RT-PCR confirmed reduced transcript expression. This allele is hypomorphic. (J:198059)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 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 Erf Mutation:  31 strains or lines available
References
Original:  J:198059 Twigg SR, et al., Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. Nat Genet. 2013 Mar;45(3):308-13
All:  3 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
12/10/2024
MGI 6.24
The Jackson Laboratory