Capza2^em1Yoch
Endonuclease-mediated Allele Detail

Summary

• Symbol: Capza2^em1Yoch
• Name: capping actin protein of muscle Z-line subunit alpha 2; endonuclease-mediated mutation 1, Yong Cheng
• MGI ID: MGI:8250452
• Synonyms: CAPZA2^c.G776T, Capza2^{em1(R259L)Smoc}
• Gene: Capza2 Location: Chr6:17637009-17666971 bp, + strand Genetic Position: Chr6, 7.96 cM
• Alliance: Capza2^em1Yoch page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to T change at position 776 (c.G776T) resulting in an arginine to leucine substitution at amino acid 259 (p.R259L). This is a disruptive de novo mutation identified in a pediatric patient with intellectual disability. (J:370017)

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Capza2 Mutation: 25 strains or lines available

References

• Original: J:370017 Guo M, et al., Deciphering the role of CAPZA2 in neurodevelopmental disorders: insights from mouse models. Commun Biol. 2025 Jul 15;8(1):1048
• All: 1 reference(s)