Rbm20^em1Mhoo
Endonuclease-mediated Allele Detail

Summary

• Symbol: Rbm20^em1Mhoo
• Name: RNA binding motif protein 20; endonuclease-mediated mutation 1, Maarten MG van den Hoogenhof
• MGI ID: MGI:7465148
• Synonyms: Rbm20-R636Q
• Gene: Rbm20 Location: Chr19:53665737-53855511 bp, + strand Genetic Position: Chr19, 48.28 cM
• Alliance: Rbm20^em1Mhoo page

Mutation origin

• Strain of Origin: (C57BL/6 x C3H)F1

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated an arginine to glutamine substitution at amino acid 636 (p.R636Q). This mutation is equivalent to the R634Q cardiopathy disease-related variant located in the RSRSP stretch. (J:334961)

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 Rbm20 Mutation: 54 strains or lines available

References

• Original: J:334961 Lennermann DC, et al., Deep phenotyping of two preclinical mouse models and a cohort of RBM20 mutation carriers reveals no sex-dependent disease severity in RBM20 cardiomyopathy. Am J Physiol Heart Circ Physiol. 2022 Dec 1;323(6):H1296-H1310
• All: 1 reference(s)