ENU mutagenesis induced an A to G transition at base pair 28,782,011 (v38) on chromosome 10, or base pair 113,685 in the GenBank genomic region NC_000076. The mutation results in an arginine (R) to glycine (G) substitution at position 345 (R345G) and is strongly predicted by Polyphen-2 to cause loss of function (score = 1.00). (J:211400)

Basic Information

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

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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