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

Symbol:	Efemp2tm1.2Hiya
Name:	epidermal growth factor-containing fibulin-like extracellular matrix protein 2; targeted mutation 1.2, Hiromi Yanagisawa
MGI ID:	MGI:4947939
Synonyms:	Flbn4GKO
Gene:	Efemp2  Location: Chr19:5523982-5532545 bp, + strand  Genetic Position: Chr19, 4.33 cM, cytoband A
Alliance:	Efemp2tm1.2Hiya page

Germline Transmission:	Earliest citation of germline transmission: J:170883
Parent Cell Line:	SM1 (ES Cell)
Strain of Origin:	129S6/SvEvTac

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: Cre-mediated recombination removed exons 1 through 3 from Efemp2tm1.1Hiya. The absence of transcript expression was confirmed by quantitative RT-PCR on aorta extracts. (J:170883)

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	9 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 Efemp2 Mutation:	26 strains or lines available

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:	6 reference(s)