This mutation arose as the result of the random insertion of an unrelated transgene. Molecular analysis indicated that two integration sites had occurred on chromosome 3 and a 20 kb deletion was also associated with one of these integration sites. 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 severely reduced in the otocyst, in contrast to controls. This tissue specific loss is thought to be due to juxtaposition of the inserted transgenic reporter construct that interferes with the function of tissue-specific regulatory elements. (J:98458)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(CBA x C57BL/6)F1
--
Intragenic deletion
Recessive
1
6
4

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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