Rreb1^em1Rtpl
Endonuclease-mediated Allele Detail

Summary

• Symbol: Rreb1^em1Rtpl
• Name: ras responsive element binding protein 1; endonuclease-mediated mutation 1, Robert Rottapel
• MGI ID: MGI:7339258
• Gene: Rreb1 Location: Chr13:37962376-38135981 bp, + strand Genetic Position: Chr13, Syntenic
• Alliance: Rreb1^em1Rtpl page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology deleted an exon common to all splice variants, resulting in a premature stop codon. (J:296982)

Disease models

Expression

In Structures Affected by this Mutation:

5 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 Rreb1 Mutation: 162 strains or lines available

References

• Original: J:296982 Kent OA, et al., Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes. Nat Commun. 2020 Sep 16;11(1):4673
• All: 1 reference(s)