Atp7a^rs29094899-C
Spontaneous Allele Detail

Summary

• Symbol: Atp7a^rs29094899-C
• Name: ATPase, Cu++ transporting, alpha polypeptide; rs29094899 SNP allele with the C variant
• MGI ID: MGI:6405764
• Synonyms: Atp7a⁺
• Gene: Atp7a Location: ChrX:105070882-105168532 bp, + strand Genetic Position: ChrX, 47.36 cM
• Alliance: Atp7a^rs29094899-C page

Mutation origin

• Strain of Origin: various

Mutation description

• Allele Type: Spontaneous (Not Specified)
• Mutation: Single point mutation
• Mutation details: A C-to-T polymorphism at coding nucleotide 1010 (SNP rs29094899) changes codon 337 from alanine to valine (p.A337V). This C variant (with the valine codon) is the major allele found in the C57BL/6 strain 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: 69 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)