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)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
SJL/J
Spontaneous
Intragenic deletion
Recessive
1
3
1

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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