Symbol
Name
ID
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Synonyms
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bHLHa38, charlie chaplin, M-Twist, pdt, Pluridigite, Skam10Jus, Ska10
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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(14)
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Alleles
and
phenotypes
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All alleles(6) :
Targeted, knock-out(2)
Targeted, other(1)
Chemically induced(3)
| Homozygous embyros have neural tube defects and die around E11. Heterozygous mutants are viable and exhibit features of human Saethre-Chotzen syndrome, including hindlimb polydactyly, craniofacial defects, long bone abnormalities, an abnormal gait and a small size. |
Associated Human Diseases (1)
Alleles Annotated to Human Diseases (3)
Phenotype Images (1)
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Polymorphisms
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SNPs within 2kb(3 from dbSNP Build 128)
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Gene Ontology
(GO)
classifications
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Expression
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Literature Summary: (96 records)
Data Summary:
Assays (25)
Results (143)
Tissues (99)
Images (63)
Theiler Stages: 11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,28
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Assay Type |
Assays |
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Results |
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RT-PCR |
2 |
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8 |
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RNA in situ |
20 |
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115 |
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Immunohistochemistry |
1 |
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8 |
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Northern blot |
2 |
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12 |
cDNA source data(31)
External Resources:
Allen Brain Atlas
GEO
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Molecular
reagents
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All nucleic(44)
Genomic(4)
cDNA(34)
Primer pair(2)
Other(4)
Antibodies(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:8293
Shedlovsky A et al.,
"Induction of recessive lethal mutations in the T/t-H-2 region of the mouse genome by a point mutagen."
Genet Res 1986 Apr;47(2):135-42
(Latest)
J:150764
Bildsoe H et al.,
"Requirement for Twist1 in frontonasal and skull vault development in the mouse embryo."
Dev Biol 2009 Jul 15;331(2):176-88
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All references(135)
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Other
accession IDs
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MGD-MRK-15305, MGI:1890569, MGI:2144752, MGI:3038444
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