Lmx1b^em2Esd
Endonuclease-mediated Allele Detail

Summary

• Symbol: Lmx1b^em2Esd
• Name: LIM homeobox transcription factor 1 beta; endonuclease-mediated mutation 2, Evan S Deneris
• MGI ID: MGI:8240281
• Synonyms: Lmx1b^R200Q
• Gene: Lmx1b Location: Chr2:33450977-33530620 bp, - strand Genetic Position: Chr2, 22.48 cM
• Alliance: Lmx1b^em2Esd page

Mutation origin

• Strain of Origin: C57BL/6 x SJL

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Single point mutation
• Mutation details:

  CRISPR-targeting of exons 4 and 5 introduced the mutation (CGA to CAA) responsible for the amino acid substitution of arginine with glutamine at position 246 (R200Q). This mutation mimics the mutation found in human beings with LMX1B DNA-binding missense mutations. (J:364183)

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Lmx1b Mutation: 19 strains or lines available

References

• Original: J:364183 Eastman B, et al., LMX1B missense-perturbation of regulatory element footprints disrupts serotonergic forebrain axon arborization. Proc Natl Acad Sci U S A. 2025 Apr 8;122(14):e2411716122
• All: 1 reference(s)