Atp7a^{rs247587933-A}
Spontaneous Allele Detail

Summary

• Symbol: Atp7a^{rs247587933-A}
• Name: ATPase, copper transporting, alpha polypeptide; rs247587933 SNP allele with the A variant
• MGI ID: MGI:6405775
• Synonyms: Atp7a^R1253Q, Atp7a^R1254Q
• Gene: Atp7a Location: ChrX:105070882-105168532 bp, + strand Genetic Position: ChrX, 47.36 cM
• Alliance: Atp7a^{rs247587933-A} page

Mutation origin

• Strain of Origin: various

Mutation description

• Allele Type: Spontaneous (Not Specified)
• Mutation: Single point mutation
• Mutation details: This G-to-A polymorphism at coding nucleotide 3762 (SNP rs247587933) changes codon 1254 from arginine to glutamine (p.R1254Q). This minor allele is found in the 129, BALB/cJ, C3H/HeJ, CBA/J, FVB/NJ, and LP/J 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)