Itpr1^em1Drf
Endonuclease-mediated Allele Detail

Summary

• Symbol: Itpr1^em1Drf
• Name: inositol 1,4,5-trisphosphate receptor 1; endonuclease-mediated mutation 1, David R FitzPatrick
• MGI ID: MGI:5823155
• Gene: Itpr1 Location: Chr6:108190057-108528070 bp, + strand Genetic Position: Chr6, 49.74 cM
• Alliance: Itpr1^em1Drf page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• CRISPR/Cas9 technology was used to design guide RNAs that target coding exon 57. (J:231957)

Expression

In Mice Carrying this Mutation:	2 assay results
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 Itpr1 Mutation: 184 strains or lines available

References

• Original: J:231957 McEntagart M, et al., A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect. Am J Hum Genet. 2016 May 5;98(5):981-92
• All: 1 reference(s)