Itpr1^tm1.1Swch
Targeted Allele Detail

Summary

• Symbol: Itpr1^tm1.1Swch
• Name: inositol 1,4,5-trisphosphate receptor 1; targeted mutation 1.1, S R Wayne Chen
• MGI ID: MGI:7543840
• Synonyms: ITPR1-D2594K⁺
• Gene: Itpr1 Location: Chr6:108190057-108528070 bp, + strand Genetic Position: Chr6, 49.74 cM
• Alliance: Itpr1^tm1.1Swch page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:341866
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutation: Nucleotide substitutions
• Mutation details: A GAC to AAA change resulting in an aspartate to lysine substitution at amino acid 2594 (p.D2594K) was introduced in the channels gating domain. The inserted FRT-flanked neomycin selection cassette was removed via flp-mediated recombination. This mutation increases the sensitivity of IP3-induced calcium release and is a gain-of-function allele. (J:341866)

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: 185 strains or lines available

References

• Original: J:341866 Sun B, et al., A gain-of-function mutation in the ITPR1 gating domain causes male infertility in mice. J Cell Physiol. 2022 Aug;237(8):3305-3316
• All: 2 reference(s)