About   Help   FAQ
Targeted Allele Detail
Symbol: Efemp1tm1Eap
Name: epidermal growth factor-containing fibulin-like extracellular matrix protein 1; targeted mutation 1, Eric A Pierce
MGI ID: MGI:3774265
Synonyms: Efemp1R345W
Gene: Efemp1  Location: Chr11:28853204-28926743 bp, + strand  Genetic Position: Chr11, 16.32 cM, cytoband A4
Germline Transmission:  Earliest citation of germline transmission: J:129901
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S6/SvEvTac
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsA floxed neo cassette was inserted between exon 8 and an exon 9 containing a nucleotide substitution that results in the amino acid substitution of a tryptophan for an arginine at position 345 (R345W). The neo cassette was removed by cre-mediated recombination. mRNA is expressed at levels equal to wild-type and protein levels in the eyes are similar to wild-type. (J:129901)
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:129901 Fu L, et al., The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice. Hum Mol Genet. 2007 Oct 15;16(20):3411-22
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.11
The Jackson Laboratory