ENU-induced T to A transversion at base pair 138,113,562 (v38) on chromosome 1, or base pair 62,195 in the GenBank genomic region NC_000067 within the splice donor site of intron 9 (2-base pairs from exon 9). The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in the use of a cryptic site in intron 9. The resulting transcript would have a 53-base pair insertion of intron 9 that would cause an in-frame protein product beginning after amino acid 203 of the protein [which is normally 1,293 amino acids in length (isoform 1)], and termination after the inclusion of 13 aberrant amino acids. (J:272745)

Basic Information

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

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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