ENU mutagenesis induced a T to A transversion at position 2599 in exon 15. This point mutation results in termination of protein translation instead of coding for a cystein at position 772 (C772X). The protein product is truncated after the second RCC1 homology domain. (J:149893)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
SSL/LeJ
Chemically induced
Single point
Recessive
1
--
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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