Symbol
Name
ID
|
|
|
STS
|
DXMit22,DXMit23,DXNds1
|
|
Synonyms
|
HPGRT
|
|
Genetic Map
|
|
|
Sequence Map
|
|
Mammalian
homology
|
|
|
Sequences
|
All sequences(41)
|
Alleles
and
phenotypes
|
All alleles(82) :
Targeted, knock-out(1)
Targeted, other(54)
Gene trapped(24)
Transgenic(2)
Spontaneous(1)
| Homozygotes for null mutations exhibit a four- to fivefold increase in de novo purine synthesis, but are phenotypically normal. |
Associated Human Diseases (3)
Alleles Annotated to Human Diseases (3)
|
|
Polymorphisms
|
All PCR and RFLP(11) :
PCR(3)
RFLP(8)
SNPs within 2kb(124 from dbSNP Build 128)
|
Gene Ontology
(GO)
classifications
|
|
|
Expression
|
Literature Summary: (22 records)
Data Summary:
Assays (4)
Results (14)
Tissues (6)
Theiler Stages: 13,21,25,26,28
| |
Assay Type |
Assays |
|
Results |
| |
RT-PCR |
4 |
|
14 |
cDNA source data(192)
External Resources:
Allen Brain Atlas
GENSAT
GEO
|
Molecular
reagents
|
All nucleic(222)
Genomic(20)
cDNA(193)
Primer pair(7)
Other(2)
Microarray probesets(2)
|
|
Pathways
|
|
Other database
links
|
|
Protein
domains
|
| InterPro ID |
Description |
| IPR000836 |
Phosphoribosyltransferase |
| IPR002375 |
Purine/pyrimidine phosphoribosyl transferase, conserved site |
| IPR005904 |
Hypoxanthine phosphoribosyl transferase |
Graphical View
of Protein Domain Structure
|
|
References
|
(Earliest)
J:12173
Coleman DL,
"Effect of genic substitution on the incorporation of tyrosine into the melanin of mouse skin."
Arch Biochem Biophys 1962 Mar;96():562-8
(Latest)
J:154043
Lippert E et al.,
"Gnotobiotic IL-10; NF-kappaB mice develop rapid and severe colitis following Campylobacter jejuni infection."
PLoS One 2009;4(10):e7413
|
All references(247)
|
Other
accession IDs
|
MGD-MRK-10922, MGI:2148073
|
