Atp4a^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Atp4a^m1Btlr
• Name: ATPase, H+/K+ exchanging, gastric, alpha polypeptide; mutation 1, Bruce Beutler
• MGI ID: MGI:4839212
• Synonyms: sublytic
• Gene: Atp4a Location: Chr7:30411634-30424959 bp, + strand Genetic Position: Chr7, 19.2 cM
• Alliance: Atp4a^m1Btlr page

Mutation origin

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

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: The mutation has been identified as a T to C transition at nucleotide position 863 of the transcript, in the seventh of the gene's 22 exons. It is predicted to result in replacement of serine by proline at amino acid position 282 of the encoded gastric H,K-ATPase alpha subunit. RT-PCR confirmed a 2-fold reduction in transcript expression in the stomach. (J:179090) Additional incidental mutations were detected in sequencing for the causative mutation, Atp4a^m1Btlr, and may be present in stocks carrying this mutation.

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

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 Atp4a Mutation: 63 strains or lines available

References

• Original: J:179090 Krieg L, et al., Mutation of the gastric hydrogen-potassium ATPase alpha subunit causes iron-deficiency anemia in mice. Blood. 2011 Dec 8;118(24):6418-25
• All: 3 reference(s)