ENU mutagenesis induced a G to T transversion at base pair 53468395 (v38) on Chromosome 13, equivalent to base pair 388435 in the GenBank genomic region NC_000079. The mutation corresponds to residue 648 in the NM_013601 mRNA sequence in exon 2 of 2 total exons. The mutation results in an arginine (R) to leucine (L) substitution at residue 193 (R193L). (J:204501)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
4
--

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:
Show/Hide columns
Phenotypes

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top