A 1.3 kb fragment encompassing exon 2 and flanking intronic sequence was replaced with a neomycin selection cassette inserted by homologous recombination. The deleted region encoded both the DNA-binding and dimerization domains. An aberrant transcript resulting from a splice of exon 1 to exon 3 was identified by RT-PCR analysis of homozygous mutant liver and brain tissues. Sequence analysis indicated that the mutant transcript is out of frame and terminates in exon 3, encoding a polypeptide comprised of 31 residues. (J:81645)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Intragenic deletion
--
1
--
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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