Myocd^em1Blk
Endonuclease-mediated Allele Detail

Summary

• Symbol: Myocd^em1Blk
• Name: myocardin; endonuclease-mediated mutation 1, Brian L Black
• MGI ID: MGI:6450718
• Synonyms: Myocd^deltaLZ
• Gene: Myocd Location: Chr11:65067387-65160815 bp, - strand Genetic Position: Chr11, 40.42 cM
• Alliance: Myocd^em1Blk page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/cas9 mediated recombination resulted in a 24 bp deletion, leading to loss of 9 amino acids (INQLTWKLR) and the creation of one amino acid (Met), in the leucine zipper region of the protein (p.I531_R539delinsM in NP_666498.2). (J:283803)

Disease models

Expression

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 Myocd Mutation: 55 strains or lines available

References

• Original: J:283803 Houweling AC, et al., Loss-of-function variants in myocardin cause congenital megabladder in humans and mice. J Clin Invest. 2019 Dec 2;129(12):5374-5380
• All: 1 reference(s)