ENU mutagenesis led to a G-to-A point mutation in the splicing donor site of the third exon of the gene locus. This mutation resulted in skipping of exon 3 during transcription and production of a internally truncated transcript that potentially encodes a polypeptide that lacks sequence from aspartic acid-49 to lysine-75. RT-PCR confirmed the presence of a truncated mRNA. This is considered a hypomorph allele. (J:136470)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Chemically induced
Single point
Recessive
1
2
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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