ENU-induced A to G transition at base pair 30,877,534 (v38) on chromosome 7, or base pair 2,808 in the GenBank genomic region NC_000073. The mutation corresponds to residue 709 in the mRNA sequence NM_001043317 (variant 1) within exon 5 of 16 total exons and to residue 584 in the mRNA sequence NM_009845 (variant 2) within exon 3 of 14 total exons. The mutated nucleotide is indicated in red. The mutation results in an isoleucine to threonine substitution at position 116 (I116T) in both isoforms of the protein. (J:254827)

Basic Information

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

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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