ENU mutagenesis induced a C to A transversion at base pair 80,730,042 (v38) on Chromosome 10, or 12,170 in the GenBank genomic region NC_000076 encoding Ap3d1. The mutation corresponds to residue 510 in the mRNA sequence NM_007460 within exon 4 of 31 total exons. The mutation results in an alanine (A) to glutamic acid (E) substitution at amino acid 97 (A97E). (J:203758)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
3
--

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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