Shank1^em1Hwa
Endonuclease-mediated Allele Detail

Summary

• Symbol: Shank1^em1Hwa
• Name: SH3 and multiple ankyrin repeat domains 1; endonuclease-mediated mutation 1, Hongyan Wang
• MGI ID: MGI:7768145
• Synonyms: Shank1 P1812L
• Gene: Shank1 Location: Chr7:43959677-44009996 bp, + strand Genetic Position: Chr7, 28.83 cM
• Alliance: Shank1^em1Hwa page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/cas9 mediated recombination created a P1812L knockin allele. The substitution corresponds to a recurrent Autism Spectrum Disorder mutation in humans. (J:357936)

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 Shank1 Mutation: 98 strains or lines available

References

• Original: J:357936 Qin Y, et al., Downregulation of mGluR1-mediated signaling underlying autistic-like core symptoms in Shank1 P1812L-knock-in mice. Transl Psychiatry. 2023 Oct 25;13(1):329
• All: 1 reference(s)