Map3k20^em2Smun
Endonuclease-mediated Allele Detail

Summary

• Symbol: Map3k20^em2Smun
• Name: mitogen-activated protein kinase kinase kinase 20; endonuclease-mediated mutation 2, Stefan Mundlos
• MGI ID: MGI:5903729
• Gene: Map3k20 Location: Chr2:72115981-72272954 bp, + strand Genetic Position: Chr2, 43.11 cM
• Alliance: Map3k20^em2Smun page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:231477
• Parent Cell Line: G4 (ES Cell)
• Strain of Origin: (129S6/SvEvTac x C57BL/6NCrl)F1

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 targeting exon 12 through 16 created a 12 kb deletion of the targeted exons that encodes the SAM domain. mRNA expression analysis confirmed normal expression levels of the modified transcript. (J:231477)

Disease models

Expression

In Mice Carrying this Mutation:	11 assay results
In Structures Affected by this Mutation:	2 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 Map3k20 Mutation: 67 strains or lines available

References

• Original: J:231477 Spielmann M, et al., Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice. Genome Res. 2016 Feb;26(2):183-91
• All: 1 reference(s)