Elp1^tm1.1Gilas
Targeted Allele Detail

Summary

• Symbol: Elp1^tm1.1Gilas
• Name: elongator complex protein 1; targeted mutation 1.1, Gil Ast
• MGI ID: MGI:5512768
• Synonyms: IKBKAP^FDloxP
• Gene: Elp1 Location: Chr4:56749680-56802331 bp, - strand Genetic Position: Chr4, 31.66 cM
• Alliance: Elp1^tm1.1Gilas page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:198544
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Humanized sequence, Inserted expressed sequence)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exon 20 and its two flanking introns were replaced by the corresponding human sequence, containing a T to C transition at position 6 of intron 20 (IVS+6T>C). This mutation is the most common observed in patients with familial dysautonomia. Flp-mediated recombination removed the neomycin resistance cassette inserted into intron 20. QRT-PCR confirmed elevated expression of a transcript skipping exon 20 in the liver and brain. (J:198544)

Disease models

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 Elp1 Mutation: 69 strains or lines available

References

• Original: J:198544 Bochner R, et al., Phosphatidylserine increases IKBKAP levels in a humanized knock-in IKBKAP mouse model. Hum Mol Genet. 2013 Jul 15;22(14):2785-94
• All: 2 reference(s)