Elp1^{tm1c(KOMP)Wtsi}
Targeted Allele Detail

Summary

• Symbol: Elp1^{tm1c(KOMP)Wtsi}
• Name: elongator complex protein 1; targeted mutation 1c, Wellcome Trust Sanger Institute
• MGI ID: MGI:5558022
• Synonyms: Ikbkap^LoxP
• Gene: Elp1 Location: Chr4:56749680-56802331 bp, - strand Genetic Position: Chr4, 31.66 cM
• Alliance: Elp1^{tm1c(KOMP)Wtsi} page
• IMPC: Elp1 gene page

Reduced numbers of sympathetic and dorsal root ganglia neurons in Elp1^{tm1c(KOMP)Wtsi}/Elp1^{tm1c(KOMP)Wtsi} H2az2^{Tg(Wnt1-cre)11Rth}/0 fetuses

Show the 5 phenotype image(s) involving this allele.

Mutation origin

• Mutant Cell Line: EPD0033_2_A09
• Germline Transmission: Earliest citation of germline transmission: J:202989
• Parent Cell Line: JM8.F6 (ES Cell)
• Strain of Origin: C57BL/6N
• Project Collection: KOMP-CSD

Mutation description

Allele Type: Targeted (Conditional ready) Mutation: Insertion Vector: L1L2_gt0 Mutation details: The L1L2_gt0 cassette was inserted at position 56796283 of Chromosome 4 upstream of the critical exon(s) (Build GRCm39). The cassette is composed of an FRT flanked lacZ/neomycin sequence followed by a loxP site. An additional loxP site is inserted downstream of the targeted exon(s) at position 56796283. The critical exon is thus flanked by loxP sites. Flp mediated recombination removed the lacZ/neomycin cassette leaving exon 4 floxed. Further information on targeting strategies used for this and other IKMC alleles can be found at http://www.informatics.jax.org/mgihome/nomen/IKMC_schematics.shtml. (J:202989)

Schematic for the Elp1^tm1a(KOMP)Wtsi and Elp1^tm1c(KOMP)Wtsi alleles

Disease models

Expression

In Mice Carrying this Mutation:	24 assay results 2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	10 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:202989 George L, et al., Familial dysautonomia model reveals Ikbkap deletion causes apoptosis of Pax3+ progenitors and peripheral neurons. Proc Natl Acad Sci U S A. 2013 Nov 12;110(46):18698-703
• All: 16 reference(s)