Symbol
Name
ID
|
|
|
Synonyms
|
Pax-8
|
|
Genetic Map
|
|
|
Sequence Map
|
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Mammalian
homology
|
|
|
Sequences
|
All sequences(27)
|
Alleles
and
phenotypes
|
All alleles(3) :
Targeted, knock-out(1)
Targeted, other(2)
| Homozygotes for targeted mutations exhibit severe hypothyroidism due to thyroid follicular cell aplasia, male infertility, deafness, ataxia, growth retardation, tiny spleens, impaired ossification of long bones and maturation of the small intestine, fatty livers, and lethality around weaning age. |
Associated Human Diseases (1)
Alleles Annotated to Human Diseases (2)
|
|
Polymorphisms
|
RFLP(5)
SNPs within 2kb(275 from dbSNP Build 128)
|
Gene Ontology
(GO)
classifications
|
|
|
Expression
|
Literature Summary: (50 records)
Data Summary:
Assays (11)
Results (75)
Tissues (39)
Images (11)
Theiler Stages: 14,15,17,19,20,21,22,23,24,26,28
| |
Assay Type |
Assays |
|
Results |
| |
Western blot |
1 |
|
2 |
| |
RNA in situ |
2 |
|
12 |
| |
Immunohistochemistry |
2 |
|
9 |
| |
Nuclease S1 |
1 |
|
5 |
| |
RNase protection |
5 |
|
47 |
cDNA source data(31)
External Resources:
Allen Brain Atlas
GEO
|
Molecular
reagents
|
All nucleic(48)
Genomic(11)
cDNA(33)
Primer pair(2)
Other(2)
Antibodies(3)
Microarray probesets(2)
|
Other database
links
|
|
Protein
domains
|
| InterPro ID |
Description |
| IPR001523 |
Paired box protein, N-terminal |
| IPR009057 |
Homeodomain-like |
| IPR011991 |
Winged helix repressor DNA-binding |
Graphical View
of Protein Domain Structure
|
|
References
|
(Earliest)
J:72
Plachov D et al.,
"Pax8, a murine paired box gene expressed in the developing excretory system and thyroid gland."
Development 1990 Oct;110(2):643-51
(Latest)
J:153202
Gerber SD et al.,
"The murine Fgfrl1 receptor is essential for the development of the metanephric kidney."
Dev Biol 2009 Nov 1;335(1):106-19
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All references(93)
|
Other
accession IDs
|
MGD-MRK-13151, MGD-MRK-13160
|
