Tcirg1^M1Jeau
Chemically induced Allele Detail

Summary

• Symbol: Tcirg1^M1Jeau
• Name: T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3; mutation 1, Jane Aubin
• MGI ID: MGI:5496553
• Synonyms: Tcirg1^R740S
• Gene: Tcirg1 Location: Chr19:3946050-3957133 bp, - strand Genetic Position: Chr19, 3.62 cM
• Alliance: Tcirg1^M1Jeau page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced a C to A point mutation in exon 18 resulting in the amino acid substitution of serine for arginine at position 740 (R740S). (J:196503)
• Inheritance: Dominant

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Tcirg1 Mutation: 36 strains or lines available

References

• Original: J:196503 Ochotny N, et al., The V-ATPase a3 subunit mutation R740S is dominant negative and results in osteopetrosis in mice. J Bone Miner Res. 2011 Jul;26(7):1484-93
• All: 4 reference(s)