Atp2b2^Tkh
Spontaneous Allele Detail

Summary

• Symbol: Atp2b2^Tkh
• Name: ATPase, Ca++ transporting, plasma membrane 2; Tikho
• MGI ID: MGI:6470863
• Gene: Atp2b2 Location: Chr6:113720803-114019574 bp, - strand Genetic Position: Chr6, 52.85 cM
• Alliance: Atp2b2^Tkh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:327181
• Parent Cell Line: JM8.N19 (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Spontaneous (Hypomorph)
• Mutation: Single point mutation
• Mutation details: A spontaneous mutation resulted in a G to C point mutation (g.6:113759212G>C; GRCm38) resulting in the amino acid substitution of arginine with glycine at position 969 (R969G). (J:327181)
• Inheritance: Dominant

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 Atp2b2 Mutation: 66 strains or lines available

References

• Original: J:327181 Lewis MA, et al., Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme. BMC Biol. 2022 Mar 17;20(1):67
• All: 1 reference(s)