A GAC was inserted at amino acid 775, adding an additional aspartic acid to the protein. Northern blot demonstrated comparable expression to that of wild-type mice, indicating normal RNA expression. However, Western blot analysis showed that protein level is dramatically reduced. (J:105316)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
DBA/2J
Spontaneous
Insertion
Recessive
--
--
6

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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