ENU-induced G to C transversion at base pair 111,319,716 (v38) on chromosome 8, or base pair 18,741 in the GenBank genomic region NC_000074. The mutation is within the splice donor site of intron 6, one base pair away from exon 6 (out of 11 total exons). The effect of the mutation on the mRNA sequence and mutant protein expression is unknown. In the event of exon 6 skipping, the aberrant transcript would have a deletion of the 136 base pair exon 6 (corresponding to amino acids 263-308), a frame-shift, and coding of 29 aberrant amino acids followed by a premature stop codon (within exon 8) after amino acid 291. (J:234251)

Basic Information

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