Elp1^tm1.1Id
Targeted Allele Detail

Summary

• Symbol: Elp1^tm1.1Id
• Name: elongator complex protein 1; targeted mutation 1.1, Ioannis Dragatsis
• MGI ID: MGI:5297555
• Synonyms: Ikbkap^delta20
• Gene: Elp1 Location: Chr4:56749680-56802331 bp, - strand Genetic Position: Chr4, 31.66 cM
• Alliance: Elp1^tm1.1Id page

Cardiovascular and brain malformations in Elp1^tm1Id/Elp1^tm1Id and Elp1^tm1.1Id/Elp1^tm1.1Id embryos

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:178070
• Parent Cell Line: W9.5/W95 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

Allele Type: Targeted (Null/knockout) Mutations: Insertion, Intragenic deletion Mutation details: A loxP site was inserted into intron 19 and a floxed neo-stop cassette was inserted into intron 20 via homologous recombination. Cre mediated recombination removed exon 20 and the neo-stop cassette. RT-PCR analysis confirmed the expression of a stable mRNA lacking exon 20. (J:178070)

Generation of an Ikbkap allele lacking exon 20

Disease models

Expression

In Mice Carrying this Mutation:	32 assay results
In Structures Affected by this Mutation:	28 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 Elp1 Mutation: 69 strains or lines available

References

• Original: J:178070 Dietrich P, et al., Deletion of exon 20 of the familial dysautonomia gene ikbkap in mice causes developmental delay, cardiovascular defects, and early embryonic lethality. PLoS One. 2011;6(10):e27015
• All: 6 reference(s)