Symbol
Name
ID
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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(22) :
Spontaneous(5)
Chemically induced(2)
Radiation induced(15)
| Homozygous recessive mutants have shortened, slightly ruffled external ears due to a defective cartilage framework affecting the whole skeleton; a series of genomic deletions of the region cause embryonic lethality. |
Associated Human Diseases (1)
Alleles Annotated to Human Diseases (1)
Phenotype Images (1)
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Polymorphisms
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SNPs within 2kb(468 from dbSNP Build 128)
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Gene Ontology
(GO)
classifications
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Expression
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Literature Summary: (32 records)
Data Summary:
Assays (8)
Results (92)
Tissues (61)
Images (29)
Theiler Stages: 9,11,12,13,14,15,17,19,20,21,22,23,24,25,28
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Assay Type |
Assays |
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Results |
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RT-PCR |
4 |
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11 |
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RNA in situ |
3 |
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69 |
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Northern blot |
1 |
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12 |
cDNA source data(31)
External Resources:
Allen Brain Atlas
GENSAT
GEO
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Molecular
reagents
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All nucleic(43)
Genomic(5)
cDNA(32)
Primer pair(3)
Other(3)
Microarray probesets(3)
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Other database
links
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Protein
domains
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| InterPro ID |
Description |
| IPR001111 |
Transforming growth factor beta (TGFb), N-terminal |
| IPR001839 |
Transforming growth factor beta |
| IPR015615 |
Transforming growth factor-beta-related |
| IPR017948 |
Transforming growth factor beta, conserved site |
Graphical View
of Protein Domain Structure
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References
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(Earliest)
J:14849
Lynch CJ,
"Short ears, an autosomal mutation in the house mouse"
Am Naturalist 1921;55():421-426
(Latest)
J:150516
Hu Z et al.,
"NDST1-dependent heparan sulfate regulates BMP signaling and internalization in lung development."
J Cell Sci 2009 Apr 15;122(Pt 8):1145-54
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All references(122)
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Other
accession IDs
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MGD-MRK-14349, MGD-MRK-1603, MGI:2143223
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