Symbol
Name
ID
|
|
|
STS
|
D15Mit41,D15Mit43
|
|
Synonyms
|
Col2, Col2a, Col2a-1, Del1
|
|
Genetic Map
|
|
|
Sequence Map
|
|
Mammalian
homology
|
|
|
Sequences
|
All sequences(33)
|
Alleles
and
phenotypes
|
All alleles(7) :
Targeted, knock-out(1)
Targeted, other(1)
Gene trapped(3)
Spontaneous(1)
Radiation induced(1)
| Mutations in this locus affect cartilage development. Homozygotes die perinatally with anomalies such as shortened limbs without epiphiseal growth plates, cleft palate and persistence of notochord. Heterozygotes are dwarfed with reduced cartilage matrix. |
Associated Human Diseases (3)
Alleles Annotated to Human Diseases (2)
Phenotype Images (2)
|
|
Polymorphisms
|
RFLP(3)
SNPs within 2kb(129 from dbSNP Build 128)
|
Gene Ontology
(GO)
classifications
|
|
|
Expression
|
Literature Summary: (280 records)
Data Summary:
Assays (51)
Results (438)
Tissues (264)
Images (183)
Theiler Stages: 11,13,14,15,16,17,18,19,20,21,22,23,24,25,26,28
| |
Assay Type |
Assays |
|
Results |
| |
Western blot |
1 |
|
4 |
| |
RT-PCR |
8 |
|
71 |
| |
RNA in situ |
32 |
|
282 |
| |
Immunohistochemistry |
5 |
|
69 |
| |
Northern blot |
4 |
|
11 |
| |
RNase protection |
1 |
|
1 |
cDNA source data(246)
External Resources:
Allen Brain Atlas
GENSAT
GEO
|
Molecular
reagents
|
All nucleic(279)
Genomic(10)
cDNA(252)
Primer pair(9)
Other(8)
Antibodies(7)
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:6582
Brown KS et al.,
"Disproportionate micromelia (Dmm): an incomplete dominant mouse dwarfism with abnormal cartilage matrix."
J Embryol Exp Morphol 1981 Apr;62():165-82
(Latest)
J:153077
Satake H et al.,
"Spatio-temporal expression of activating transcription factor 5 in the skeletal development of mouse limb."
Dev Growth Differ 2009 Sep;51(7):669-76
|
All references(344)
|
Other
accession IDs
|
MGD-MRK-2061, MGD-MRK-2062, MGD-MRK-2063, MGD-MRK-8871
|
