ENU mutagenesis generated an A to G transition mutation in the splice donor site downstream of exon 24. This mutation results in the production of a transcript that skips exon 24, translation of this transcript is expected to result in a frame shift and premature termination in exon 25. Whole mount in situ and western blot analysis indicated that wild-type protein expression is greatly reduced in homozygous embryos at E10.5. (J:163196, J:175371)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
--
1
11
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:
Show/Hide columns
Phenotypes

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top