Symbol
Name
ID
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Genetic Map
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Chromosome 2
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Syntenic
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Mapping data(
1)
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Sequence Map
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Mammalian homology
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Sequences
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All sequences(26)
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Alleles and phenotypes
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All alleles(11) :
Targeted, knock-out(1)
Gene trapped(10)
| Homozygous mutation of this gene with one allele results in embryonic lethality with disruption of Reichert's membrane. Heterozygous mutation with a second allele results in ectasia in kidney and liver veins and an increased neutrophil count. |
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Polymorphisms
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SNPs within 2kb(85 from dbSNP Build 128)
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Gene Ontology (GO) classifications
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Expression
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Literature Summary: (4 records)
Data Summary:
Assays (1)
Results (5)
Tissues (5)
Theiler Stages: 28
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Assay Type |
Assays |
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Results |
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RT-PCR |
1 |
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5 |
cDNA source data(53)
External Resources:
Allen Brain Atlas
GENSAT
GEO
ArrayExpress
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Molecular reagents
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All nucleic(54)
cDNA(53)
Primer pair(1)
Microarray probesets(2)
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Other database links
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Protein domains
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Graphical View
of Protein Domain Structure
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References
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(Earliest)
J:82929
Henion TR et al.,
"Expression of dystroglycan, fukutin and POMGnT1 during mouse cerebellar development."
Brain Res Mol Brain Res 2003 Apr 10;112(1-2):177-81
(Latest)
J:137930
Lommel M et al.,
"POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo."
Glycobiology 2008 Aug;18(8):615-25
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All references(8)
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