Symbol
Name
ID
|
|
|
Synonyms
|
Col1a-1, Cola-1, Cola1, Mov-13
|
|
Genetic Map
|
|
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Sequence Map
|
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Mammalian
homology
|
|
|
Sequences
|
All sequences(48)
|
Alleles
and
phenotypes
|
All alleles(14) :
Targeted, knock-out(3)
Targeted, other(6)
Gene trapped(2)
Transgenic(1)
Chemically induced(2)
| Mutations in this locus cause variable phenotype, from embryonic lethal to viable/fertile with altered fibrillogenesis. Homozygotes can show impaired bone formation and fragility, osteoporosis, dermal fibrosis, impaired uterine postpartum involution, and aortic dissection. |
Associated Human Diseases (2)
Alleles Annotated to Human Diseases (4)
Phenotype Images (5)
|
|
Polymorphisms
|
All PCR and RFLP(3) :
PCR(2)
RFLP(1)
SNPs within 2kb(82 from dbSNP Build 128)
|
Gene Ontology
(GO)
classifications
|
|
|
Expression
|
Literature Summary: (145 records)
Data Summary:
Assays (26)
Results (162)
Tissues (111)
Images (38)
Theiler Stages: 11,13,15,17,18,19,20,21,22,23,24,25,26,28
| |
Assay Type |
Assays |
|
Results |
| |
RT-PCR |
3 |
|
6 |
| |
RNA in situ |
16 |
|
111 |
| |
Immunohistochemistry |
1 |
|
10 |
| |
Northern blot |
6 |
|
35 |
cDNA source data(15)
External Resources:
Allen Brain Atlas
GENSAT
GEO
|
Molecular
reagents
|
All nucleic(46)
Genomic(13)
cDNA(22)
Primer pair(4)
Other(7)
Antibodies(1)
Microarray probesets(2)
|
Other database
links
|
|
Protein
domains
|
| InterPro ID |
Description |
| IPR000885 |
Fibrillar collagen, C-terminal |
| IPR001007 |
von Willebrand factor, type C |
| IPR008160 |
Collagen triple helix repeat |
Graphical View
of Protein Domain Structure
|
|
References
|
(Earliest)
J:6514
Jaenisch R et al.,
"Chromosomal position and activation of retroviral genomes inserted into the germ line of mice."
Cell 1981 May;24(2):519-29
(Latest)
J:152843
Luo J et al.,
"Regulation of bone formation and remodeling by G-protein-coupled receptor 48."
Development 2009 Aug;136(16):2747-56
|
All references(264)
|
Other
accession IDs
|
MGD-MRK-12362, MGD-MRK-12380, MGD-MRK-2059, MGD-MRK-2087, MGD-MRK-2089
|
