Abcc6^rs32756904-T
Spontaneous Allele Detail

Summary

• Symbol: Abcc6^rs32756904-T
• Name: ATP-binding cassette, sub-family C member 6; rs32756904 SNP allele with the T variant
• MGI ID: MGI:2156660
• Synonyms: Abcc6^{Dyscalc1-C3H/HeJ}
• Gene: Abcc6 Location: Chr7:45625804-45679915 bp, - strand Genetic Position: Chr7, 29.64 cM, cytoband B3
• Alliance: Abcc6^rs32756904-T page

Mutation origin

• Strain of Origin: various

Mutation description

• Allele Type: Spontaneous
• Mutation: Undefined
• Mutation details: SNP rs32756904 contains the T variant in exon 14 creating a novel splice donor site. The resulting transcript has an amino acid substitution at position 619 (p.R619S) and is miss-splicing eliminating 5 bp at the end of the exon 14 coding sequence. This SNP is found in 129S1/SvImJ, C3H/HeJ, DBA/2J, KK/HlJ mice. (J:33253, J:133936)
• Inheritance: Recessive

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 Abcc6 Mutation: 74 strains or lines available

References

• Original: J:72021 Ivandic BT, et al., New Dyscalc loci for myocardial cell necrosis and calcification (dystrophic cardiac calcinosis) in mice. Physiol Genomics. 2001 Aug 28;6(3):137-44
• All: 8 reference(s)