This allele was first described as having four point mutations: A82T, V87A, S258L, and D301N. The first two mutations are in the most N-terminal of the four homologous repeats of the stalk region and are predicted to form an alpha-helical coiled-coil arrangement on trimerisation. S258L is in a region essential for IgE binding. A later study revealed a fifth point mutation, K131E, that occurs in the stalk region. This allele is found in mice of 129 or NZB origin. (J:93999, J:142807)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
NZB
Spontaneous
Nucleotide substitutions
Dominant
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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