Efemp1^tm1Lmar
Targeted Allele Detail

Summary

• Symbol: Efemp1^tm1Lmar
• Name: epidermal growth factor-containing fibulin-like extracellular matrix protein 1; targeted mutation 1, Lihua Y Marmorstein
• MGI ID: MGI:3770755
• Synonyms: Efemp1^ki
• Gene: Efemp1 Location: Chr11:28803204-28876743 bp, + strand Genetic Position: Chr11, 16.32 cM, cytoband A4
• Alliance: Efemp1^tm1Lmar page

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 (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

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

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: 36 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: 3 reference(s)