Efemp1^tm1Eap
Targeted Allele Detail

Summary

• Symbol: Efemp1^tm1Eap
• Name: epidermal growth factor-containing fibulin-like extracellular matrix protein 1; targeted mutation 1, Eric A Pierce
• MGI ID: MGI:3774265
• Synonyms: Efemp1^R345W
• Gene: Efemp1 Location: Chr11:28803204-28876743 bp, + strand Genetic Position: Chr11, 16.32 cM, cytoband A4
• Alliance: Efemp1^tm1Eap page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:129901
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A loxP site flanked neomycin resistance gene cassette was inserted into intron 8 and an exon 9 was modified to change arginine codon 345 (CGA) to tryptophan (TGG) (p.R345W). The neo cassette was removed through subsequent Cre-mediated recombination. The mutation is the equivalent of the same human mutation associated with age-related macular degeneration (AMD). mRNA is expressed at levels equal to wild-type and protein levels in the eyes are similar to wild-type. (J:129901)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
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: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: 5 reference(s)