Csmd3^em1Yawa
Endonuclease-mediated Allele Detail

Summary

• Symbol: Csmd3^em1Yawa
• Name: CUB and Sushi multiple domains 3; endonuclease-mediated mutation 1, Yan Wang
• MGI ID: MGI:7260208
• Gene: Csmd3 Location: Chr15:47444033-48655459 bp, - strand Genetic Position: Chr15, 17.81 cM, cytoband D1
• Alliance: Csmd3^em1Yawa page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 2-bp deletion (AC) from nucleotide 389 to 390 in exon 2, leading to a frameshift mutation and a stop codon of TAG and resulting in premature termination of the protein at amino acid 131. Expression of mRNA is reduced in the cortex of homozygotes at E18 and P60. (J:322323)

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 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 Csmd3 Mutation: 252 strains or lines available

References

• Original: J:322323 Song W, et al., Putative complement control protein CSMD3 dysfunction impairs synaptogenesis and induces neurodevelopmental disorders. Brain Behav Immun. 2022 Mar 1;102:237-250
• All: 1 reference(s)