Symbol
Name
ID
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Synonyms
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bare patches, Bpa, H105E3, Str, striated, XAP104
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Genetic Map
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Sequence Map
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Mammalian
homology
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Sequences
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All sequences(31)
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Alleles
and
phenotypes
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All alleles(14) :
Gene trapped(4)
Spontaneous(3)
Chemically induced(2)
Radiation induced(5)
| Heterozygous females exhibit a striped coat or skin hyperkeratotic lesions leaving bare patches on the coat, with some mutations also resulting in skeletal dysplasia and eye defects. Hemizygous male and homozygous female mice die before birth, presumably due to placental defects. |
Associated Human Diseases (1)
Alleles Annotated to Human Diseases (1)
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Polymorphisms
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SNPs within 2kb(189 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 (4)
Results (23)
Tissues (23)
Images (2)
Theiler Stages: 15,17,19,20,21,22,23,24,25,26,28
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Assay Type |
Assays |
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Results |
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RT-PCR |
2 |
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3 |
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Northern blot |
2 |
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20 |
cDNA source data(13)
External Resources:
Allen Brain Atlas
GENSAT
GEO
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Molecular
reagents
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All nucleic(21)
Genomic(6)
cDNA(13)
Primer pair(2)
Microarray probesets(2)
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Pathways
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Other database
links
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Protein
domains
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| InterPro ID |
Description |
| IPR002225 |
3-beta hydroxysteroid dehydrogenase/isomerase |
| IPR016040 |
NAD(P)-binding domain |
Graphical View
of Protein Domain Structure
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References
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(Earliest)
J:272
Lyon MF,
"Attempts to test the inactive-X theory of dosage compensation in mammals"
Genet Res 1963;4():93-103
(Latest)
J:114852
Jiang F et al.,
"Analysis of Nsdhl-deficient embryos reveals a role for Hedgehog signaling in early placental development."
Hum Mol Genet 2006 Nov 15;15(22):3293-305
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All references(32)
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Other
accession IDs
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MGD-MRK-14635, MGD-MRK-1611, MGI:2147912, MGI:88187, MGI:98437
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