A failed complementation test between this spontantous mutation and the agitans-like mutation proved them allelic and a deletion of 2 bp (AA) was found at chromosome 14 60,046,668-60,046,669 bp (GRCm38) that results in a frameshift mutation and premature termination in the coding sequence. (J:222308)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
CBA/J
Spontaneous
Undefined
Recessive
--
--
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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