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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: Chr11:28853204-28926743 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
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:  23 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:  2 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
The Jackson Laboratory