Dmxl1^em3Rstot
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dmxl1^em3Rstot
• Name: Dmx-like 1; endonuclease-mediated mutation 3, Rolf Stottmann
• MGI ID: MGI:8293348
• Synonyms: Dmxl1^A2330T
• Gene: Dmxl1 Location: Chr18:49965737-50098540 bp, + strand Genetic Position: Chr18, 27.12 cM
• Alliance: Dmxl1^em3Rstot page

Mutation origin

• Strain of Origin: C57BL/6NCrl

Mutation description

• Allele Type: Endonuclease-mediated (Hypomorph)
• Mutation: Single point mutation
• Mutation details: CRISPR-targeting introduced the mutation (GCA to ACA) responsible for the amino acid substitution of alanine with threonine at position 2330 (A2330T). Quantitative real-time PCR analysis of craniofacial tissues at E13.5 shows a ~25% and ~40% reduction of Dmxl1 expression in heterozygous and homozygous embryos, respectively, suggesting that this could be a hypomorphic allele with sufficient transcript levels and/or protein activity for DMXL1 function and animal survival. (J:376266)

Expression

In Mice Carrying this Mutation:

21 assay results

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 Dmxl1 Mutation: 159 strains or lines available

References

• Original: J:376266 Vontell AM, et al., Dmxl1 is required for survival in the mouse to organogenesis stages of development. Differentiation. 2025 Nov 26;146:100917
• All: 1 reference(s)