Atp7a^rs13483926-C
Spontaneous Allele Detail

Summary

• Symbol: Atp7a^rs13483926-C
• Name: ATPase, copper transporting, alpha polypeptide; rs13483926 SNP allele with the C variant
• MGI ID: MGI:6405766
• Synonyms: Atp7a^L470P, Atp7a^L471P
• Gene: Atp7a Location: ChrX:105070882-105168532 bp, + strand Genetic Position: ChrX, 47.36 cM
• Alliance: Atp7a^rs13483926-C page

Mutation origin

• Strain of Origin: various

Mutation description

• Allele Type: Spontaneous (Not Specified)
• Mutation: Single point mutation
• Mutation details: This T-to-C polymorphism at coding nucleotide 1412 (SNP rs13483926) changes codon 471 from leucine to proline (p.L471P). This is the major allele found in the 129, A/J, BALB/cJ, C3H/HeJ, CBA/J, FVB/NJ, and most 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)