A T to A transversion is located in exon 20 resulting in a tyrosine to asparagine missense mutation (Y873N). Western blot analysis showed similar levels of protein expression in all tissues examined except adipose tissue where protein levels are about twice that of controls. In adipose tissue from homozygous mutant mice phosphatidate phosphatase type 1 activity is reduced to about 20% of controls. (J:153042)

Basic Information

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