ENU-induced C to T transition at base pair 74,624,284 (v38) on chromosome 10, or base pair 1,524,257 in the GenBank genomic region NC_000076 for the gene. The mutation corresponds to residue 4,499 in the mRNA sequence NM_023115 (variant A) within exon 31 of 35 total exons. The mutation results in an arginine (R) to tryptophan (W) substitution at position 1,360 (R1360W) in the protein. (J:236676)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
10
--

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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