| Type |
Details |
Score |
| Publication |
| First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
| Year: |
2010 |
| Journal: |
Database Download |
| Title: |
Consensus CDS project |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Group |
| Year: |
2003 |
| Journal: |
Database Procedure |
| Title: |
Automatic Encodes (AutoE) Reference |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Bairoch A |
| Year: |
1999 |
| Journal: |
Database Release |
| Title: |
SWISS-PROT Annotated protein sequence database |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2005 |
|
| Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics |
| Year: |
2010 |
| Journal: |
Database Release |
| Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2005 |
|
| Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2009 |
| Journal: |
Database Download |
| Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Carninci P |
| Year: |
2005 |
| Journal: |
Science |
| Title: |
The transcriptional landscape of the mammalian genome. |
| Volume: |
309 |
| Issue: |
5740 |
| Pages: |
1559-63 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Saint-Laurent C |
| Year: |
2018 |
| Journal: |
PLoS One |
| Title: |
Early postnatal soluble FGFR3 therapy prevents the atypical development of obesity in achondroplasia. |
| Volume: |
13 |
| Issue: |
4 |
| Pages: |
e0195876 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:6363656 |
| Assay Type: |
RNA in situ |
| Annotation Date: |
2019-10-16 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:3285720 |
| Pattern: |
Not Specified |
| Stage: |
TS20 |
| Assay Id: |
MGI:6363685 |
| Age: |
embryonic day 12.5 |
|
| Note: |
Expression unchanged compared to control. |
| Specimen Label: |
Fgfr3 -/- not shown |
| Detected: |
true |
| Specimen Num: |
3 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:6363678 |
| Assay Type: |
RNA in situ |
| Annotation Date: |
2019-10-16 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:3285720 |
| Pattern: |
Not Specified |
| Stage: |
TS20 |
| Assay Id: |
MGI:6363712 |
| Age: |
embryonic day 12.5 |
|
| Note: |
Expression unchanged compared to control. |
| Specimen Label: |
Fgfr3 -/- not shown |
| Detected: |
true |
| Specimen Num: |
1 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:6363679 |
| Assay Type: |
RNA in situ |
| Annotation Date: |
2019-10-16 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:3285720 |
| Pattern: |
Not Specified |
| Stage: |
TS20 |
| Assay Id: |
MGI:6363713 |
| Age: |
embryonic day 12.5 |
|
| Note: |
Expression unchanged compared to control. |
| Specimen Label: |
Fgfr3 -/- not shown |
| Detected: |
true |
| Specimen Num: |
1 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:6363680 |
| Assay Type: |
RNA in situ |
| Annotation Date: |
2019-10-16 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:3285720 |
| Pattern: |
Not Specified |
| Stage: |
TS20 |
| Assay Id: |
MGI:6363714 |
| Age: |
embryonic day 12.5 |
|
| Note: |
Expression unchanged compared to control. |
| Specimen Label: |
Fgfr3 -/- not shown |
| Detected: |
true |
| Specimen Num: |
1 |
|
•
•
•
•
•
|
| GXD Expression |
| Probe: |
MGI:6363676 |
| Assay Type: |
RNA in situ |
| Annotation Date: |
2019-10-16 |
| Strength: |
Present |
| Sex: |
Not Specified |
| Emaps: |
EMAPS:3285720 |
| Pattern: |
Not Specified |
| Stage: |
TS20 |
| Assay Id: |
MGI:6363710 |
| Age: |
embryonic day 12.5 |
|
| Note: |
Expression unchanged compared to control. |
| Specimen Label: |
Fgfr3 -/- not shown |
| Detected: |
true |
| Specimen Num: |
3 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Matsushita M |
| Year: |
2015 |
| Journal: |
Endocrinology |
| Title: |
Meclozine promotes longitudinal skeletal growth in transgenic mice with achondroplasia carrying a gain-of-function mutation in the FGFR3 gene. |
| Volume: |
156 |
| Issue: |
2 |
| Pages: |
548-54 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Sun F |
| Year: |
2009 |
| Journal: |
Nucleic Acids Res |
| Title: |
Remodeling of chromatin structure within the promoter is important for bmp-2-induced fgfr3 expression. |
| Volume: |
37 |
| Issue: |
12 |
| Pages: |
3897-911 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Zingone A |
| Year: |
2010 |
| Journal: |
Leukemia |
| Title: |
Ectopic expression of wild-type FGFR3 cooperates with MYC to accelerate development of B-cell lineage neoplasms. |
| Volume: |
24 |
| Issue: |
6 |
| Pages: |
1171-8 |
|
•
•
•
•
•
|
| Pathway |
|
•
•
•
•
•
|
| Pathway |
|
•
•
•
•
•
|
| Pathway |
|
•
•
•
•
•
|
| Pathway |
|
•
•
•
•
•
|
| Pathway |
|
•
•
•
•
•
|
| Pathway |
|
•
•
•
•
•
|
| HT Experiment |
| Series Id: |
GSE15452 |
| Experiment Type: |
transcription profiling by array |
| Study Type: |
WT vs. Mutant |
| Source: |
ArrayExpress |
|
•
•
•
•
•
|
| Interaction Experiment |
| Description: |
Fgfr3 is a transcriptional target of Ap2delta and Ash2l-containing histone methyltransferase complexes. |
|
•
•
•
•
•
|
| Interaction Experiment |
| Description: |
Sprouty 2 disturbs FGFR3 degradation in thanatophoric dysplasia type II: a severe form of human achondroplasia. |
|
•
•
•
•
•
|
| Allele |
| Name: |
fibroblast growth factor receptor 3; targeted mutation 3.1, Laurence Legeai-Mallet |
| Allele Type: |
Targeted |
| Attribute String: |
Constitutively active, Humanized sequence |
|
•
•
•
•
•
|
| Allele |
| Name: |
fibroblast growth factor receptor 3; targeted mutation 1, Shanghai Model Organisms Center |
| Allele Type: |
Targeted |
| Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Fgfr3/Fgfr3<+> |
| Background: |
involves: C57BL/6N |
| Zygosity: |
ht |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| DO Term |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Tan CC |
| Year: |
2009 |
| Journal: |
PLoS One |
| Title: |
Fgfr3 is a transcriptional target of Ap2delta and Ash2l-containing histone methyltransferase complexes. |
| Volume: |
4 |
| Issue: |
12 |
| Pages: |
e8535 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Guo C |
| Year: |
2008 |
| Journal: |
Cell Signal |
| Title: |
Sprouty 2 disturbs FGFR3 degradation in thanatophoric dysplasia type II: a severe form of human achondroplasia. |
| Volume: |
20 |
| Issue: |
8 |
| Pages: |
1471-7 |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
coisogenic, mutant strain, targeted mutation |
|
•
•
•
•
•
|
| Allele |
| Name: |
fibroblast growth factor receptor 3; targeted mutation 1.1, Andrew O M Wilkie |
| Allele Type: |
Targeted |
| Attribute String: |
Humanized sequence |
|
•
•
•
•
•
|
| DO Term |
|
•
•
•
•
•
|
| DO Term |
|
•
•
•
•
•
|
| DO Term |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Kang S |
| Year: |
2007 |
| Journal: |
Cancer Cell |
| Title: |
FGFR3 activates RSK2 to mediate hematopoietic transformation through tyrosine phosphorylation of RSK2 and activation of the MEK/ERK pathway. |
| Volume: |
12 |
| Issue: |
3 |
| Pages: |
201-14 |
|
•
•
•
•
•
|
| Allele |
| Name: |
transgene insertion 4-2, William D Richardson |
| Allele Type: |
Transgenic |
| Attribute String: |
Inducible, Recombinase |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Fgfr3/Fgfr3 |
| Background: |
CBACa.129P2-Fgfr3 |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Fgfr3/Fgfr3<+> |
| Background: |
B6.129P2-Fgfr3 |
| Zygosity: |
ht |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Fgfr3/Fgfr3<+> |
| Background: |
CBACa.129P2-Fgfr3 |
| Zygosity: |
ht |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Fgfr3/Fgfr3 |
| Background: |
129S6.129P2-Fgfr3 |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Fgfr3/Fgfr3 |
| Background: |
B6.129P2-Fgfr3 |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Fgfr3/Fgfr3<+> |
| Background: |
129S6.129P2-Fgfr3 |
| Zygosity: |
ht |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| DO Term |
|
•
•
•
•
•
|
| DO Term |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Krejci P |
| Year: |
2008 |
| Journal: |
PLoS One |
| Title: |
Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilage. |
| Volume: |
3 |
| Issue: |
12 |
| Pages: |
e3961 |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
mutant stock, transgenic |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Slezak M |
| Year: |
2019 |
| Journal: |
Curr Biol |
| Title: |
Distinct Mechanisms for Visual and Motor-Related Astrocyte Responses in Mouse Visual Cortex. |
| Volume: |
29 |
| Issue: |
18 |
| Pages: |
3120-3127.e5 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Matsushita M |
| Year: |
2017 |
| Journal: |
Sci Rep |
| Title: |
Clinical dosage of meclozine promotes longitudinal bone growth, bone volume, and trabecular bone quality in transgenic mice with achondroplasia. |
| Volume: |
7 |
| Issue: |
1 |
| Pages: |
7371 |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
633
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Allele |
| Name: |
transgene insertion KB81, GENSAT Project at Rockefeller University |
| Allele Type: |
Transgenic |
| Attribute String: |
Reporter |
|
•
•
•
•
•
|
| Allele |
| Name: |
transgene insertion 10, Jean Hebert |
| Allele Type: |
Transgenic |
| Attribute String: |
Conditional ready, Inserted expressed sequence, Reporter |
|
•
•
•
•
•
|
| Allele |
| Name: |
fibroblast growth factor receptor 3; targeted mutation 1.1, Yuan-Tsong Chen |
| Allele Type: |
Targeted |
| Attribute String: |
Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Kimura T |
| Year: |
2021 |
| Journal: |
Sci Transl Med |
| Title: |
An RNA aptamer restores defective bone growth in FGFR3-related skeletal dysplasia in mice. |
| Volume: |
13 |
| Issue: |
592 |
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Ozaki T |
| Year: |
2020 |
| Journal: |
Sci Rep |
| Title: |
Evaluation of FGFR inhibitor ASP5878 as a drug candidate for achondroplasia. |
| Volume: |
10 |
| Issue: |
1 |
| Pages: |
20915 |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
427
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
315
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Allele |
| Name: |
fibroblast growth factor receptor 3; targeted mutation 1, Weizmann Institute of Science |
| Allele Type: |
Targeted |
|
|
•
•
•
•
•
|
| Allele |
| Name: |
transgene insertion A, David M Ornitz |
| Allele Type: |
Transgenic |
| Attribute String: |
Inserted expressed sequence |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
coisogenic, mutant strain, transgenic |
|
•
•
•
•
•
|
| Allele |
| Name: |
transgene insertion B, David M Ornitz |
| Allele Type: |
Transgenic |
| Attribute String: |
Inserted expressed sequence |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
transgenic, mutant strain, coisogenic |
|
•
•
•
•
•
|
| Allele |
| Name: |
transgene insertion 7, Avner Yayon |
| Allele Type: |
Transgenic |
| Attribute String: |
Inserted expressed sequence |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
mutant stock, transgenic |
|
•
•
•
•
•
|
| Allele |
| Name: |
transgene insertion, David M Ornitz |
| Allele Type: |
Transgenic |
| Attribute String: |
Constitutively active, Inserted expressed sequence |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
transgenic, mutant stock |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Tg(Col2a1-Fgfr3/GH)ADor/Tg(Col2a1-Fgfr3/GH)ADor |
| Background: |
FVB/N-Tg(Col2a1-Fgfr3/GH)ADor |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Tg(Col2a1-Fgfr3/GH)BDor/? |
| Background: |
FVB/N-Tg(Col2a1-Fgfr3/GH)BDor |
| Zygosity: |
ot |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Fgfr3/Fgfr3 |
| Background: |
involves: 129 |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Fgfr3/Fgfr3<+> |
| Background: |
involves: 129 |
| Zygosity: |
ht |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Fgfr3/Fgfr3 |
| Background: |
involves: 129S1/Sv * 129X1/SvJ * MF1 |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Tg(FGFR3-G380R)7Aya/? |
| Background: |
involves: BALB/c * C57BL/6 |
| Zygosity: |
ot |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Tg(FGFR3-G380R)7Aya/Tg(FGFR3-G380R)7Aya |
| Background: |
involves: BALB/c * C57BL/6 |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
801
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
208
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
154
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Keegan K |
| Year: |
1993 |
| Journal: |
Cytogenet Cell Genet |
| Title: |
The fibroblast growth factor receptor 3 gene (FGFR3) is assigned to human chromosome 4. |
| Volume: |
62 |
| Issue: |
2-3 |
| Pages: |
172-5 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Xu M |
| Year: |
2022 |
| Journal: |
Stem Cell Res Ther |
| Title: |
Expansion of FGFR3-positive nucleus pulposus cells plays important roles in postnatal nucleus pulposus growth and regeneration. |
| Volume: |
13 |
| Issue: |
1 |
| Pages: |
227 |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
751
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
492
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Anttonen T |
| Year: |
2017 |
| Journal: |
eNeuro |
| Title: |
Cytoskeletal Stability in the Auditory Organ In Vivo: RhoA Is Dispensable for Wound Healing but Essential for Hair Cell Development. |
| Volume: |
4 |
| Issue: |
5 |
|
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
268
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Salazar L |
| Year: |
2009 |
| Journal: |
Hum Mol Genet |
| Title: |
A novel interaction between fibroblast growth factor receptor 3 and the p85 subunit of phosphoinositide 3-kinase: activation-dependent regulation of ERK by p85 in multiple myeloma cells. |
| Volume: |
18 |
| Issue: |
11 |
| Pages: |
1951-61 |
|
•
•
•
•
•
|
| Protein Domain |
| Type: |
Domain |
| Description: |
This entry represents the SH3 domain of PI3K (phosphoinositide-3-kinase) subunit alpha (also known as subunit p85-alpha). Class I PI3Ks convert PtdIns(4,5)P2 to the critical second messenger PtdIns(3,4,5)P3. Class IA PI3Ks consist of a p110 catalytic subunit bound to one of five regulatory subunits, generated by alternative splicing of three different genes: p85alpha, p85beta, and p55gamma [, ]. The p85 subunits contain the SH3, RhoGAP, and SH2 domains. They recruit the p110 subunit to the membrane, where p110 phosphorylates inositol lipids []. Vertebrates contain two p85 isoforms, alpha and beta. In addition to regulating the p110 subunit, p85alpha interacts with activated FGFR3 []. |
|
•
•
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•
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| Publication |
| First Author: |
Zhang Y |
| Year: |
2014 |
| Journal: |
Cell Rep |
| Title: |
H3K36 histone methyltransferase Setd2 is required for murine embryonic stem cell differentiation toward endoderm. |
| Volume: |
8 |
| Issue: |
6 |
| Pages: |
1989-2002 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Wüchner C |
| Year: |
1997 |
| Journal: |
Hum Genet |
| Title: |
Human fibroblast growth factor receptor 3 gene (FGFR3): genomic sequence and primer set information for gene analysis. |
| Volume: |
100 |
| Issue: |
2 |
| Pages: |
215-9 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Gong Z |
| Year: |
2023 |
| Journal: |
Nat Commun |
| Title: |
CircRREB1 mediates lipid metabolism related senescent phenotypes in chondrocytes through FASN post-translational modifications. |
| Volume: |
14 |
| Issue: |
1 |
| Pages: |
5242 |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
913
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Protein |
| Organism: |
Mus musculus/domesticus |
| Length: |
695
 |
| Fragment?: |
false |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Yasoda A |
| Year: |
2004 |
| Journal: |
Nat Med |
| Title: |
Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway. |
| Volume: |
10 |
| Issue: |
1 |
| Pages: |
80-6 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Fan J |
| Year: |
2023 |
| Journal: |
J Clin Invest |
| Title: |
O-GlcNAc transferase in astrocytes modulates depression-related stress susceptibility through glutamatergic synaptic transmission. |
| Volume: |
133 |
| Issue: |
7 |
|
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•
•
•
•
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