A neomycin resistance gene replaced the 5' end of exon 5. This mutation is predicted to result in a protein that lacks four amino acids of the heterodimerization domain. RT-PCR analysis on RNA derived from embryos demonstrated that transcripts lacking exon 5 were produced from this allele. Western blot analysis on extracts from ES cells and homozygous embryos confirmed that an aberrant protein was made that appeared to lack sequences encoded by exon 5. (J:36593)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S4/SvJae
Targeted
Insertion, Intragenic deletion
--
1
2
8

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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