ENU-induced T-to-A transversion at base pair 121,270,319 (GRCm38) on chromosome 2, or base pair 20,007 in the GenBank genomic region NC_000068 within intron 2 (10 base pairs from exon 3). 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 2. The resulting transcript would have a 60-base pair insertion of intron 2, which would cause an in-frame insertion of 19 aberrant amino acids beginning after amino acid 64. (J:254848)

Basic Information

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