Itpr1^wblo
Spontaneous Allele Detail

Summary

• Symbol: Itpr1^wblo
• Name: inositol 1,4,5-trisphosphate receptor 1; wobbly locomotion
• MGI ID: MGI:4437432
• Gene: Itpr1 Location: Chr6:108190057-108528070 bp, + strand Genetic Position: Chr6, 49.74 cM
• Alliance: Itpr1^wblo page

Mutation origin

• Strain of Origin: B6;129-Gla^tm1Kul/J

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: This spontaneous mutation was identified at The Jackson Laboratory. The molecular lesion is a G-to-A mutation at coding nucleotide 1166 of the cDNA (NM_010585) which alters an arginine to a histidine at position 389 of the encoded protein (p.R389H). (J:222308)
• Inheritance: Recessive

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Itpr1 Mutation: 180 strains or lines available

References

• Original: J:159015 Karst SY, et al., Wobbly locomotion; a new neurological mutation causing an abnormal gait. MGI Direct Data Submission. 2010
• All: 2 reference(s)