A mutation recovered in a radiation mutagenesis experiment. Molecular analysis revealed an inversion with breakpoints at B and E1. Genetic noncomplementation tests with a targeted mutation indicated that this mutation is an allele of Sox2. Genomic PCR analysis showed that the coding region and nearby flanking DNA was intact in the mutants. Expression of the gene was intact in most of the developing neural tube but was not detected in the otocyst or adjacent region of the hindbrain, in contrast to controls. This tissue specific loss is thought to be due to loss or translocation of tissue-specific regulatory elements. (J:98458)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C3H/HeH x 101/H
Radiation induced
Inversion
Recessive
1
6
5

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