This spontaneous mutation, discovered in a production colony at The Jackson Laboratory, was shown to be allelic with the original Jackson circler mutation by failure of the two alleles to complement one another. A G-to-T transversion occurs at coding nucleotide position 1894 (c.1894G>T) that converts the glycine codon at amino acid residue 632 to a stop codon (p.G632*). The resulting protein is reduced in length by 28%. (J:113021, J:137716)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
B6.129S2-Il6tm1Kopf/J
Spontaneous
Single point
Recessive
1
1
2

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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