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EN
A G-to-T transversion results in a nonsense mutation at glutamic acid codon 555 (ENSMUSP00000003620 p.E555*) in a conserved carboxy terminal region 135 bp upstream of the native stop codon. The presence of the mutation has been correlated with increased proline levels and is believed to be responsible for hyperprolinaemia observed in the Pro/Re strain. Full length transcript was identified by Northern blot analysis. (J:54012)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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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References Literature
Title
PMID
Journal
Year
IF
