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Efemp1tm1Eap
Targeted Allele Detail
Nomenclature
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
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
Mutations:    Insertion, Nucleotide substitutions
 
Mutation details
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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:  5 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:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/16/2014
MGI 5.19
The Jackson Laboratory