ENU mutagenesis induced a T to C transversion at bp 64291 in intron 29, within the donor splice site, 2 nucleotides after exon 29 of the Prkdc mRNA (NCBI RefSeq: NM_011159.2). The point mutation results in the amino acid substitution of isoleucine to threonine at position 1010 (I1010T). (J:178522)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
--
1
2
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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