A PGK-neomycin selection cassette replaced part of intron 4 and part of exon 5. RT-PCR analysis on RNA derived from brain of homozygous mice demonstrated that the mutation resulted in the production of a transcript that lacked exon 5 sequences, resulting in a frameshift that introduced a stop codon downstream of the mutation. Western blot analysis on brain lysates from heterozygous mice revealed that a smaller protein of approximately 20 kDa may be produced from this allele. (J:25941)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
Insertion, Intragenic deletion
--
1
4
12

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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