Efemp2^tm1.2Hiya
Targeted Allele Detail

Summary

• Symbol: Efemp2^tm1.2Hiya
• Name: epidermal growth factor-containing fibulin-like extracellular matrix protein 2; targeted mutation 1.2, Hiromi Yanagisawa
• MGI ID: MGI:4947939
• Synonyms: Flbn4^GKO
• Gene: Efemp2 Location: Chr19:5523982-5532545 bp, + strand Genetic Position: Chr19, 4.33 cM, cytoband A
• Alliance: Efemp2^tm1.2Hiya 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 (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Cre-mediated recombination removed exons 1 through 3 from Efemp2^tm1.1Hiya. The absence of transcript expression was confirmed by quantitative RT-PCR on aorta extracts. (J:170883)

Disease models

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: 6 reference(s)