Slc25a13^hspn
Spontaneous Allele Detail

Summary

• Symbol: Slc25a13^hspn
• Name: solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 13; hyperspin
• MGI ID: MGI:5514275
• Gene: Slc25a13 Location: Chr6:6041218-6217173 bp, - strand Genetic Position: Chr6, 2.3 cM, cytoband A1
• Alliance: Slc25a13^hspn page

Mutation origin

• Strain of Origin: SJL/J

Mutation description

• Allele Type: Spontaneous (Dominant negative, Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: The hyperspin mutation is a spontaneous 123.6 kb deletion of Chromosome 6: 5.86-6.66 Mb (GRCm38) that begins in intron 3 of Slc25a13 and ends in exon 17, an interval that includes an enhancer of Dlx5 and, in addition to creating a null allele of Slc25a13, diminishes otocyst expression of Dlx5. (J:254776)
• Inheritance: Recessive

Expression

In Mice Carrying this Mutation:	4 assay results
In Structures Affected by this Mutation:	9 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Slc25a13 Mutation: 179 strains or lines available

References

• Original: J:254776 Johnson KR, et al., Deletion of a Long-Range Dlx5 Enhancer Disrupts Inner Ear Development in Mice. Genetics. 2018 Mar;208(3):1165-1179
• All: 1 reference(s)