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Efemp1tm1Lmar
Targeted Allele Detail
Nomenclature
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
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:129902
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129X1/SvJ
Mutation
description
Allele Type:    Targeted
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
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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:  5 strains or lines available
References
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:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/17/2015
MGI 5.21
The Jackson Laboratory