Atp2b2^Tmy
Chemically induced Allele Detail

Summary

• Symbol: Atp2b2^Tmy
• Name: ATPase, Ca++ transporting, plasma membrane 2; tommy
• MGI ID: MGI:2158375
• Synonyms: Gena300, Pmca2^dfw-Tmy, Tmy
• Gene: Atp2b2 Location: Chr6:113720803-114019574 bp, - strand Genetic Position: Chr6, 52.85 cM
• Alliance: Atp2b2^Tmy page

Mutation origin

• Strain of Origin: BALB/c

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: A G-to-A transition in exon 7, at nucleotide 1750 of the full-length coding sequence, is predicted to substitute lysine for a highly conserved glutamic acid at amino acid position 584 of the translation product of the z/b splice variant (E584K) and position 629 of the protein produced from the w/a variant (E629K). (J:167344)

Expression

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: 2 strains available Cell Lines: 0 lines available
• Carrying any Atp2b2 Mutation: 66 strains or lines available

References

• Original: J:167344 Bortolozzi M, et al., The novel PMCA2 pump mutation Tommy impairs cytosolic calcium clearance in hair cells and links to deafness in mice. J Biol Chem. 2010 Nov 26;285(48):37693-703
• All: 4 reference(s)