Symbol
Name
ID
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Synonyms
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Bph, brachyphalangy
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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(33)
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Alleles and phenotypes
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All alleles(19) :
Targeted, knock-out(2)
Targeted, other(3)
Gene trapped(2)
Transgenic(2)
Spontaneous(4)
Chemically induced(1)
Radiation induced(5)
| Homozygous mutants die perinatally with gross polydactyly, multiple craniofacial defects, and frequently, exencephaly. Heterozygotes exhibit enlarged interfrontal bone and extra preaxial digits. |
Associated Human Diseases (2)
Alleles Annotated to Human Diseases (2)
Phenotype Images (3)
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Polymorphisms
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All PCR and RFLP(5) :
PCR(2)
RFLP(3)
SNPs within 2kb(1321 from dbSNP Build 128)
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Gene Ontology (GO) classifications
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Expression
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Literature Summary: (186 records)
Data Summary:
Assays (39)
Results (212)
Tissues (132)
Images (72)
Theiler Stages: 2,3,4,5,13,15,16,17,18,19,20,21,22,23,24,25,28
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Assay Type |
Assays |
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Results |
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Western blot |
5 |
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12 |
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RT-PCR |
5 |
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35 |
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RNA in situ |
23 |
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150 |
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Immunohistochemistry |
2 |
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5 |
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Northern blot |
3 |
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8 |
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RNase protection |
1 |
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2 |
cDNA source data(86)
External Resources:
Allen Brain Atlas
GENSAT
GEO
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Molecular reagents
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All nucleic(109)
Genomic(4)
cDNA(90)
Primer pair(8)
Other(7)
Antibodies(6)
Microarray probesets(2)
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Other database links
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Protein domains
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| InterPro ID |
Description |
| IPR007087 |
Zinc finger, C2H2-type |
| IPR013087 |
Zinc finger, C2H2-type/integrase, DNA-binding |
| IPR015880 |
Zinc finger, C2H2-like |
Graphical View
of Protein Domain Structure
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References
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(Earliest)
J:12947
Lyon MF et al.,
"The overall rates of dominant and recessive lethal and visible mutation induced by spermatogonial X-irradiation of mice."
Genet Res 1964;5():448-467
(Latest)
J:154130
Han YG et al.,
"Dual and opposing roles of primary cilia in medulloblastoma development."
Nat Med 2009 Sep;15(9):1062-5
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All references(325)
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Other accession IDs
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MGD-MRK-10107, MGD-MRK-1107, MGD-MRK-13222, MGD-MRK-15835, MGD-MRK-1615, MGI:2145311, MGI:2145364
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