Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

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
Alliance:	Efemp1tm1Lmar page

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) Mutation:    Insertion   Mutation details: Amino 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).

In Structures Affected by this Mutation:

5 anatomical structure(s)

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:	36 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)