Symbol
Name
ID
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Synonyms
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114-CH19, 114CH19, tmgc48
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Genetic Map
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Sequence Map
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Mammalian
homology
|
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Sequences
|
All sequences(25)
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Alleles
and
phenotypes
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All alleles(4) :
Targeted, knock-out(1)
Spontaneous(1)
Chemically induced(2)
| Homozygotes for mutations at this locus exhibit aganglionic megacolon with white spotting of the hair coat due to impaired expansion and differentiation of epidermal melanoblasts. Mutants die around weaning with impacted colons. |
Associated Human Diseases (2)
Alleles Annotated to Human Diseases (3)
Phenotype Images (1)
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Polymorphisms
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PCR(1)
SNPs within 2kb(156 from dbSNP Build 128)
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Gene Ontology
(GO)
classifications
|
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Expression
|
Literature Summary: (10 records)
Data Summary:
Assays (4)
Results (23)
Tissues (18)
Theiler Stages: 18,23,25,26,28
| |
Assay Type |
Assays |
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Results |
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RT-PCR |
2 |
|
16 |
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Northern blot |
2 |
|
7 |
cDNA source data(9)
External Resources:
Allen Brain Atlas
GEO
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Molecular
reagents
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All nucleic(14)
Genomic(2)
cDNA(9)
Primer pair(3)
Microarray probesets(3)
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Other database
links
|
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Protein
domains
|
| InterPro ID |
Description |
| IPR001928 |
Endothelin-like toxin |
| IPR019764 |
Endothelin-like toxin, conserved site |
Graphical View
of Protein Domain Structure
|
|
References
|
(Earliest)
J:13391
Lyon MF,
"brachypody, bp"
Mouse News Lett 1958;19():22
(Latest)
J:139378
Spencer NJ et al.,
"Identification of capsaicin-sensitive rectal mechanoreceptors activated by rectal distension in mice."
Neuroscience 2008 May 2;153(2):518-34
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All references(62)
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Other
accession IDs
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MGD-MRK-11888, MGD-MRK-9300, MGI:3589218
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