Elp1^tm1.2Id
Targeted Allele Detail

Summary

• Symbol: Elp1^tm1.2Id
• Name: elongator complex protein 1; targeted mutation 1.2, Ioannis Dragatsis
• MGI ID: MGI:7714931
• Synonyms: Ikbkap^flox
• Gene: Elp1 Location: Chr4:56749680-56802331 bp, - strand Genetic Position: Chr4, 31.66 cM
• Alliance: Elp1^tm1.2Id page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:188923
• Parent Cell Line: W9.5/W95 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Conditional ready, Hypomorph)
• Mutation: Insertion
• 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 the neo-stop cassette, leaving exon 20 floxed. Western blot analysis indicates that protein level in heterozygote and homozygote brains is about 50% and 10%, respectively, of the levels of wild-type controls, indicating that insertion of loxP sites in intronic regions interferes with normal expression of the targeted allele and results in severely reduced protein levels. (J:188923)

Disease models

Expression

In Mice Carrying this Mutation:	10 assay results
In Structures Affected by this Mutation:	22 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:188923 Dietrich P, et al., IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia. Hum Mol Genet. 2012 Dec 1;21(23):5078-90
• All: 1 reference(s)