The prune mutation, discovered among G3 progeny of an ENU-mutagenized male mouse, corresponds to a T-to-G transversion at nucleotide position 3938 of the gene (Genbank: NM__021877), in exon 18 of 20 total exons. It results in replacement of a highly-conserved tyrosine by aspartic acid at amino acid 1082 of the protein (Y1082D). (J:138686)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
4
--

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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