Dync1h1^em1Shzb
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dync1h1^em1Shzb
• Name: dynein cytoplasmic 1 heavy chain 1; endonuclease-mediated mutation 1, Bridget Shafit-Zagardo
• MGI ID: MGI:8255226
• Synonyms: Dync1h1(P3018S)
• Gene: Dync1h1 Location: Chr12:110567886-110633379 bp, + strand Genetic Position: Chr12, 60.7 cM
• Alliance: Dync1h1^em1Shzb page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: Using CRIPSR/Cas9 mediated genome editing, a point mutation c9052C > T in the Dync1h1 gene was generated. This mutation is a patient-specific de novo point mutation found within the third functional ATPase domain. (J:373533)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Dync1h1 Mutation: 197 strains or lines available

References

• Original: J:373533 Ramos RL, et al., Patient-specific mutation of Dync1h1 in mice causes brain and behavioral deficits. Neurobiol Dis. 2024 Sep;199:106594
• All: 1 reference(s)