Itpr1^opt
Spontaneous Allele Detail

Summary

• Symbol: Itpr1^opt
• Name: inositol 1,4,5-trisphosphate receptor 1; opisthotonus
• MGI ID: MGI:1856981
• Synonyms: Itpr-1^opt
• Gene: Itpr1 Location: Chr6:108190057-108528070 bp, + strand Genetic Position: Chr6, 49.74 cM
• Alliance: Itpr1^opt page

Mutation origin

• Strain of Origin: C57BLKS-Lepr^db-2J

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: The molecular defect underlying the phenotype in the opisthotonus mouse involves a genomic deletion that alters the Itpr1 protein. The genomic deletion removes the first two exons from the mRNA, but does not disrupt the translational reading frame. The protein is reduced in expression and is predicted to have lost several modulatory sites. (J:37547)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Itpr1 Mutation: 184 strains or lines available

References

• Original: J:13536 Lane PW, Opisthotonus (opt); crooked (Cd). Mouse News Lett. 1972;47:36-7
• All: 9 reference(s)