The mutation in jck mice has been identified as a double nucleotide substitution (c.1341G>T and c.1343G>T). While c.1341G>T is a silent mutation in the last base of the leucine codon at position 447, the c.133G>T mutation in the second base of evolutionary conserved glycine codon 448 in the C-terminal domain of the protein results in it changing to valine (p.G448V). (J:79896)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J Tg 147-9a
Spontaneous
Single point
Recessive
1
4
30

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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