Actg2^em1Yiwan
Endonuclease-mediated Allele Detail

Summary

• Symbol: Actg2^em1Yiwan
• Name: actin, gamma 2, smooth muscle, enteric; endonuclease-mediated mutation 1, Ying Wang
• MGI ID: MGI:7593716
• Synonyms: Actg2^R257C
• Gene: Actg2 Location: Chr6:83489891-83513233 bp, - strand Genetic Position: Chr6, 35.94 cM
• Alliance: Actg2^em1Yiwan page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a C to T change at position 769 (c.769C>T) resulting in an arginine to cysteine substitution at amino acid 257 (p.R257C). This is the most frequently occurring variant in patients with megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS). (J:344876)

Disease models

Expression

In Structures Affected by this Mutation:

4 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 Actg2 Mutation: 17 strains or lines available

References

• Original: J:344876 Cai H, et al., Heterozygous Actg2(R257C) mice mimic the phenotype of megacystis microcolon intestinal hypoperistalsis syndrome. Neurogastroenterol Motil. 2023 Jan;35(1):e14472
• All: 1 reference(s)