Point mutations were introduced into the gene that altered codon 387 from one encoding glutamate to one endcoding proline. A neomycin selection cassette was also inserted downstream of the polyadenylation site in the 3' end of the gene. Immunohistochemistry experiments confirmed that a mutant protein was expressed from this allele in an identical pattern to the wild-type protein (data not shown). (J:47676)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S2/SvPas
Targeted
Insertion, Nucleotide substitutions
--
1
3
23

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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