Arid1b^em1Iha
Endonuclease-mediated Allele Detail

Summary

• Symbol: Arid1b^em1Iha
• Name: AT-rich interaction domain 1B; endonuclease-mediated mutation 1, Izuho Hatada
• MGI ID: MGI:6286071
• Gene: Arid1b Location: Chr17:5044607-5397931 bp, + strand Genetic Position: Chr17, 2.83 cM
• Alliance: Arid1b^em1Iha page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology using the Cas9D10A and gRNAs 5'-CCAGGCACAGTACCTGCAGC-3' and 5'-GGCGGGAGGTGCGAGGGCTG-3', generated a deletion in exon 3 that causes a frameshift in translation and premature termination. RNA expression in whole brain of heterozygotes is reduced to about 70% of the level in wild-type while protein is reduced to about 50% of that in wild-type mice. (J:271850)

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 Arid1b Mutation: 109 strains or lines available

References

• Original: J:271850 Shibutani M, et al., Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice. Int J Mol Sci. 2017 Aug 30;18(9):1872
• All: 1 reference(s)