About   Help   FAQ
Targeted Allele Detail
Symbol: Efemp1tm1Lmar
Name: epidermal growth factor-containing fibulin-like extracellular matrix protein 1; targeted mutation 1, Lihua Y Marmorstein
MGI ID: MGI:3770755
Synonyms: Efemp1ki
Gene: Efemp1  Location: Chr11:28803204-28876743 bp, + strand  Genetic Position: Chr11, 16.32 cM, cytoband A4
Germline Transmission:  Earliest citation of germline transmission: J:129902
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129X1/SvJ
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
Mutation detailsAmino acid 345 was targeted for an arginine to tryptophan mutation (R345W) by changing a CGA codon to a TGG codon within exon 10. An upstream BsmI restriction site 4 bp upstream of the codon was also mutated to aid in genotype screening, and a floxed neomycin resistance cassette was inserted into intron 11 for colony selection. Germline-transmitting chimeras were bred with Cre-transgenic mice to delete the neo cassette. Mutant protein was detected in the retina of homozygote mice by immunohistochemistry. (J:129902)
Inheritance:    Dominant
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 5 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 Efemp1 Mutation:  28 strains or lines available
Original:  J:129902 Marmorstein LY, et al., Formation and progression of sub-retinal pigment epithelium deposits in Efemp1 mutation knock-in mice: a model for the early pathogenic course of macular degeneration. Hum Mol Genet. 2007 Oct 15;16(20):3423-32
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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.19
The Jackson Laboratory