Efemp2^tm1.1Chu
Targeted Allele Detail

Summary

• Symbol: Efemp2^tm1.1Chu
• Name: epidermal growth factor-containing fibulin-like extracellular matrix protein 2; targeted mutation 1.1, Mon-Li Chu
• MGI ID: MGI:5660409
• Synonyms: Fbln4^E57K
• Gene: Efemp2 Location: Chr19:5523982-5532545 bp, + strand Genetic Position: Chr19, 4.33 cM, cytoband A
• Alliance: Efemp2^tm1.1Chu page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:223792
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: The targeting construct is designed to insert a loxP- and FRT-flanked neomycin resistance cassette, in reverse orientation, downstream of exon 4. The E57K point mutation (GAG to AAG) was introduced in exon 4 resulting in a missense mutation. E57K is found in patients with autosomal recessive cutis laxa (ARCL) 1B. Flp-mediated recombination removed the FRT-flanked neo cassette. (J:223792)

Disease models

Expression

In Structures Affected by this Mutation:

13 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Efemp2 Mutation: 26 strains or lines available

References

• Original: J:223792 Igoucheva O, et al., Fibulin-4 E57K Knock-in Mice Recapitulate Cutaneous, Vascular and Skeletal Defects of Recessive Cutis Laxa 1B with both Elastic Fiber and Collagen Fibril Abnormalities. J Biol Chem. 2015 Aug 28;290(35):21443-21459
• All: 2 reference(s)