ENU mutagenesis induced an A to G transition at base pair 76,908,668 (v38) on chromosome 8, or base pair 9,408 in the GenBank genomic region NC_000074, corresponding to residue 432 in the NM_001083906 mRNA sequence in exon 2 of 9 total exons. The mutation results in an isoleucine (I) to valine (V) substitution at position 133 (I133V) in the encoded protein. (J:225269)

Basic Information

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

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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