Atp7a^rs13483926-T
Spontaneous Allele Detail

Summary

• Symbol: Atp7a^rs13483926-T
• Name: ATPase, copper transporting, alpha polypeptide; rs13483926 SNP allele with the T variant
• MGI ID: MGI:6405767
• Synonyms: Atp7a⁺
• Gene: Atp7a Location: ChrX:105070882-105168532 bp, + strand Genetic Position: ChrX, 47.36 cM
• Alliance: Atp7a^rs13483926-T page

Mutation origin

• Strain of Origin: various

Mutation description

• Allele Type: Spontaneous (Not Specified)
• Mutation: Single point mutation
• Mutation details: A T-to-C polymorphism at coding nucleotide 1412 (SNP rs13483926) changes codon 471 from leucine to proline (p.L471P). This T variant (with the leucine codon) is the minor allele found in the C57, AKR/J, DBA, NOD/LTJ, and some other strains. (J:38977)

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 Atp7a Mutation: 68 strains or lines available

References

• Original: J:38977 Cecchi C, et al., The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene. (Correction: vol. 6(5):829). Hum Mol Genet. 1997 Mar;6(3):425-33
• All: 1 reference(s)