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Efemp2tm1.1Hiya
Targeted Allele Detail
Summary
Symbol: Efemp2tm1.1Hiya
Name: epidermal growth factor-containing fibulin-like extracellular matrix protein 2; targeted mutation 1.1, Hiromi Yanagisawa
MGI ID: MGI:4947938
Synonyms: Flbn4loxP
Gene: Efemp2  Location: Chr19:5523982-5532545 bp, + strand  Genetic Position: Chr19, 4.33 cM, cytoband A
Alliance: Efemp2tm1.1Hiya page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:170883
Parent Cell Line:  SM1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Conditional ready, No functional change)
Mutation:    Insertion
 
Mutation detailsA loxP site was inserted upstream of exon 1. An FRT-flanked neo cassette with a 3' loxP site was inserted downstream of exon 3. Flp-mediated recombination removed the neo cassette leaving exon 1 through 3 floxed. (J:170883)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 9 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 Efemp2 Mutation:  26 strains or lines available
References
Original:  J:170883 Huang J, et al., Fibulin-4 deficiency results in ascending aortic aneurysms: a potential link between abnormal smooth muscle cell phenotype and aneurysm progression. Circ Res. 2010 Feb 19;106(3):583-92
All:  9 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
12/10/2024
MGI 6.24
The Jackson Laboratory