ENU mutagenesis induced a T to A transversion at base pair 164,066,201 (v38) on chromosome 1, or base pair 4,389 in the GenBank genomic region NC_000067. The mutation affects a thymine base 9 nucleotides from exon 4 (out of 9 total exons). The affect of the mutation on expression and localization has not been examined. The mutation is predicted to affect the splice acceptor site of intron 3, resulting in skipping of the 108-base pair exon 4 (encoding amino acids 158-193). Splicing of exon 3 to exon 5 does not generate a frame-shift. (J:217794)

Basic Information

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