This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a G-to-A single point mutation at position 73104029, exon 8, nucleotide 1013 of the cDNA that is predicted to convert G-to-D at position 338 of the encoded protein (exon8:c.G1013A:p.G338D, NM_011048).The mutant phenotype is attributed to a mutation in the Pcsk6 gene. (J:175213)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Undefined
--
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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