This allele was identified in the progeny of a cross between ENU mutagenized C57BL/6J males and C3H/HeHa females. A G to A transition occurred at nucleotide 682 resulting in an A228T amino acid change in the resulting protein. This is identical to the change in Pnp1. (J:522, J:39328)

Basic Information

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

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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