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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: Chr11:28803204-28876743 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
In Structures Affected by this Mutation: 3 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: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:  4 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
MGI 6.19
The Jackson Laboratory