ENU mutagenesis induced an A to T transversion at base pair 111,495,791 (v38) on chromosome 6, or base pair 850,334 in the GenBank genomic region NC_000072. The mutation corresponds to residue 2,860 in the NM_177328 mRNA sequence in exon 9 of 10 total exons and residue 2,877 in the ENSMUST00000071076 cDNA sequence in exon 9 of 11 total exons. The mutation results in substitution of lysine 864 (K864) for a premature stop codon (K864*) in all isoforms. (J:224658)

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:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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