ENU mutagenesis induced a T to A transversion at base pair 111,261,576 (v38) on Chromosome 12, or base pair 95,207 in the GenBank genomic region NC_000078. The mutation corresponds to residue 1,395 in the mRNA sequence NM_001286122 within exon 12 of 12 total exons (isoform 1) and residue 1,581 in the mRNA sequence NM_011632 within exon 10 of 10 total exons (isoform 2). The mutation results in an valine (V) to aspartic acid (D) substitution at position 407 (V407D) in the ENSMUSP00000021706 isoform and a V to D substitution at position 382 (V382D) in the ENSMUSP00000112517 isoform. (J:212064)

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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