Atp2b2^m2Btlr
Chemically induced Allele Detail

Summary

• Symbol: Atp2b2^m2Btlr
• Name: ATPase, Ca++ transporting, plasma membrane 2; mutation 2, Bruce Beutler
• MGI ID: MGI:6283636
• Synonyms: johan
• Gene: Atp2b2 Location: Chr6:113720803-114019574 bp, - strand Genetic Position: Chr6, 52.85 cM
• Alliance: Atp2b2^m2Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU-induced G to A transition at base pair 113,773,388 (v38) on chromosome 6, or base pair 269,226 in the GenBank genomic region NC_000072. The mutation corresponds to residue 2,502 in the mRNA sequence NM_009723 (variant 1) within exon 13 of 22 total exons. The mutation results in an arginine to histidine substitution at position 625 (R625H) in the plasma membrane calcium (Ca2+)-ATPase, type 2 (PMCA2) protein (isoform 1). (J:271981)
• Inheritance: Recessive

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

Notes

https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=3670

References

• Original: J:271981 Zhang Z, et al., Mutagenetix entry for johan. MGI Direct Data Submission. 2019
• All: 1 reference(s)