Abnormal splicing of this gene results in the generation of two mutant transcripts. The major splicing product lacks 54 bp at the 5' region of the seventh exon, encoding 18 aa in the putative DNA binding domain (DBD). The minor splice product lacks 34 bp, also at the 5' region of the seventh exon, and includes 33 bp from intron 6, yielding a frameshift mutation upstream of the putative DBD. Mutations in proximity to the splice acceptor and donor sites of the sixth and seventh exons were undetected. (J:85194)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129 x C57BL/6
Spontaneous
Other
Recessive
1
4
1

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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