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This spontaneous mutation is a 4 base pair deletion of ACTG in exon 14 that is predicted to cause a frameshift after amino acid 409 and replace the 84 carboxy terminal amino acids with 45 novel amino acids. QPCR shows a 42% decrease in expression in homozygous embryonic hearts and prolidase activity is reduced to undetectable levels in adult liver, E15.5 and adult heart, and adult red blood cells. (J:215150)
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
