Type |
Details |
Score |
Allele |
Name: |
glutamate receptor interacting protein 1; eye blebs |
Allele Type: |
Spontaneous |
|
|
•
•
•
•
•
|
Allele |
Name: |
Fraser extracellular matrix complex subunit 1; blebbed |
Allele Type: |
Radiation induced |
|
|
•
•
•
•
•
|
Genotype |
Symbol: |
Fras1/Fras1 |
Background: |
involves: 129S1/Sv * 129X1/SvJ * C57BL/10 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Grip1/Grip1 |
Background: |
B6.129-Grip1 |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Grip1/Grip1 |
Background: |
involves: ATEB/Le * C57BL/6J |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Fras1/Fras1 |
Background: |
involves: 129S1/Sv * 129X1/SvJ * NMRI |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Fras1/Fras1 |
Background: |
involves: C57BL/6JAnu |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
DO Term |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Fras1/Fras1 |
Background: |
involves: C57BL/6J * FVB/NJ |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Kiyozumi D |
Year: |
2005 |
Journal: |
Exp Cell Res |
Title: |
Identification of a novel cell-adhesive protein spatiotemporally expressed in the basement membrane of mouse developing hair follicle. |
Volume: |
306 |
Issue: |
1 |
Pages: |
9-23 |
|
•
•
•
•
•
|
Publication |
First Author: |
Palmer K |
Year: |
2016 |
Journal: |
Dev Biol |
Title: |
Discovery and characterization of spontaneous mouse models of craniofacial dysmorphology. |
Volume: |
415 |
Issue: |
2 |
Pages: |
216-227 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lipp SN |
Year: |
2021 |
Journal: |
J Am Soc Nephrol |
Title: |
3D Mapping Reveals a Complex and Transient Interstitial Matrix During Murine Kidney Development. |
|
|
|
|
•
•
•
•
•
|
Genotype |
Symbol: |
Fras1/Fras1 |
Background: |
involves: 101/H * C3H/HeH |
Zygosity: |
hm |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Publication |
First Author: |
Ola R |
Year: |
2011 |
Journal: |
J Am Soc Nephrol |
Title: |
The GDNF target Vsnl1 marks the ureteric tip. |
Volume: |
22 |
Issue: |
2 |
Pages: |
274-84 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lipp SN |
Year: |
2023 |
Journal: |
Dev Dyn |
Title: |
FOXD1 is required for 3D patterning of the kidney interstitial matrix. |
Volume: |
252 |
Issue: |
4 |
Pages: |
463-482 |
|
•
•
•
•
•
|
Publication |
First Author: |
Cohen I |
Year: |
2019 |
Journal: |
Genes Dev |
Title: |
PRC1 preserves epidermal tissue integrity independently of PRC2. |
Volume: |
33 |
Issue: |
1-2 |
Pages: |
55-60 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
415
|
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Kile BT |
Year: |
2003 |
Journal: |
Nature |
Title: |
Functional genetic analysis of mouse chromosome 11. |
Volume: |
425 |
Issue: |
6953 |
Pages: |
81-6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Diman NY |
Year: |
2014 |
Journal: |
Circ Res |
Title: |
Tbx5 is required for avian and Mammalian epicardial formation and coronary vasculogenesis. |
Volume: |
115 |
Issue: |
10 |
Pages: |
834-44 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
35
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
122
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
50
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
57
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
43
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
73
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Homologous_superfamily |
Description: |
The calx-beta motif is present as a tandem repeat in the cytoplasmic domains of Calx Na-Ca exchangers, which are used to expel calcium from cells. This motif overlaps domains used for calcium binding and regulation. The calx-beta motif is also present in the cytoplasmic tail of mammalian integrin-beta4, which mediates the bi-directional transfer of signals across the plasma membrane, as well as in some cyanobacterial proteins. This motif is also found in Fras1/Frem family of extracellular proteins (extracellular matrix organizing protein FRAS1 and FRAS1-related extracellular matrix proteins FRAM1, 2 and 3) required for proper organogenesis during embryonic development and whose mutations lead to Fraser Syndrome, a rare congenital disorder characterised by multisystem malformation usually comprising abnormal brain formation, cryptophthalmos, syndactyly and renal defects []. This motif contains a series of β-strands and turns that form a self-contained β-sheet [, ]. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
The calx-beta motif is present as a tandem repeat in the cytoplasmic domains of Calx Na-Ca exchangers, which are used to expel calcium from cells. This motif overlaps domains used for calcium binding and regulation. The calx-beta motif is also present in the cytoplasmic tail of mammalian integrin-beta4, which mediates the bi-directional transfer of signals across the plasma membrane, as well as in some cyanobacterial proteins. This motif is also found in Fras1/Frem family of extracellular proteins (extracellular matrix organizing protein FRAS1 and FRAS1-related extracellular matrix proteins FRAM1, 2 and 3) required for proper organogenesis during embryonic development and whose mutations lead to Fraser Syndrome, a rare congenital disorder characterised by multisystem malformation usually comprising abnormal brain formation, cryptophthalmos, syndactyly and renal defects []. This motif contains a series of β-strands and turns that form a self-contained β-sheet [, ]. |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
533
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
92
|
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Schwarz EM |
Year: |
1997 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Calx, a Na-Ca exchanger gene of Drosophila melanogaster. |
Volume: |
94 |
Issue: |
19 |
Pages: |
10249-54 |
|
•
•
•
•
•
|
Publication |
First Author: |
Schwarz E |
Year: |
1999 |
Journal: |
Trends Biochem Sci |
Title: |
The recently reported NIbeta domain is already known as the Calx-beta motif. |
Volume: |
24 |
Issue: |
7 |
Pages: |
260 |
|
•
•
•
•
•
|
Publication |
First Author: |
Pavlakis E |
Year: |
2011 |
Journal: |
Int J Biochem Cell Biol |
Title: |
The role of Fras1/Frem proteins in the structure and function of basement membrane. |
Volume: |
43 |
Issue: |
4 |
Pages: |
487-95 |
|
•
•
•
•
•
|
Publication |
First Author: |
Fairfield H |
Year: |
2015 |
Journal: |
Genome Res |
Title: |
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. |
Volume: |
25 |
Issue: |
7 |
Pages: |
948-57 |
|
•
•
•
•
•
|
Publication |
First Author: |
Fantauzzo KA |
Year: |
2016 |
Journal: |
Genes Dev |
Title: |
PDGFRβ regulates craniofacial development through homodimers and functional heterodimers with PDGFRα. |
Volume: |
30 |
Issue: |
21 |
Pages: |
2443-2458 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1218
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
416
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
3160
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
2123
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
921
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
928
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
595
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
723
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
2127
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
199
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
921
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
2780
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
927
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
607
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1347
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
2238
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
205
|
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Tomann P |
Year: |
2016 |
Journal: |
Development |
Title: |
Lhx2 is a direct NF-κB target gene that promotes primary hair follicle placode down-growth. |
Volume: |
143 |
Issue: |
9 |
Pages: |
1512-22 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lu CC |
Year: |
2011 |
Journal: |
J Neurosci |
Title: |
Developmental profiling of spiral ganglion neurons reveals insights into auditory circuit assembly. |
Volume: |
31 |
Issue: |
30 |
Pages: |
10903-18 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
2191
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
2172
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
2173
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
706
|
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Maga AM |
Year: |
2015 |
Journal: |
Front Physiol |
Title: |
Quantitative trait loci affecting the 3D skull shape and size in mouse and prioritization of candidate genes in-silico. |
Volume: |
6 |
|
Pages: |
92 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
970
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
958
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
664
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
599
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
940
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
600
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
940
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
970
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
600
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
970
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
924
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
893
|
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Rutledge EA |
Year: |
2017 |
Journal: |
Development |
Title: |
Cellular heterogeneity in the ureteric progenitor niche and distinct profiles of branching morphogenesis in organ development. |
Volume: |
144 |
Issue: |
17 |
Pages: |
3177-3188 |
|
•
•
•
•
•
|
Publication |
First Author: |
Gurdziel K |
Year: |
2016 |
Journal: |
Dev Dyn |
Title: |
Transcriptome of the inner circular smooth muscle of the developing mouse intestine: Evidence for regulation of visceral smooth muscle genes by the hedgehog target gene, cJun. |
Volume: |
245 |
Issue: |
5 |
Pages: |
614-26 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
6298
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
6298
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1818
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1802
|
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Velocigene |
Year: |
2008 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the KOMP project by Velocigene (Regeneron Pharmaceuticals) |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
MGC Data curation in Mouse Genome Informatics |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
International Mouse Strain Resource |
Year: |
2014 |
Journal: |
Database Download |
Title: |
MGI download of germline transmission data for alleles from IMSR strain data |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Shanghai Model Organisms Center |
Year: |
2017 |
Journal: |
MGI Direct Data Submission |
Title: |
Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Stryke D |
Year: |
2003 |
Journal: |
Nucleic Acids Res |
Title: |
BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. |
Volume: |
31 |
Issue: |
1 |
Pages: |
278-81 |
|
•
•
•
•
•
|
Publication |
First Author: |
Thompson CL |
Year: |
2014 |
Journal: |
Neuron |
Title: |
A high-resolution spatiotemporal atlas of gene expression of the developing mouse brain. |
Volume: |
83 |
Issue: |
2 |
Pages: |
309-323 |
|
•
•
•
•
•
|
Publication |
First Author: |
Helmholtz Zentrum Muenchen GmbH |
Year: |
2010 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the EUCOMM and EUCOMMTools projects by the Helmholtz Zentrum Muenchen GmbH (Hmgu) |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2003 |
Journal: |
Database Download |
Title: |
Integrating Computational Gene Models into the Mouse Genome Informatics (MGI) Database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics and the International Mouse Phenotyping Consortium (IMPC) |
Year: |
2014 |
Journal: |
Database Release |
Title: |
Obtaining and Loading Phenotype Annotations from the International Mouse Phenotyping Consortium (IMPC) Database |
|
|
|
|
•
•
•
•
•
|
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: |
GOA curators |
Year: |
2016 |
|
Title: |
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2003 |
|
Title: |
MGI Sequence Curation Reference |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators |
Year: |
2011 |
|
Title: |
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Gerhard DS |
Year: |
2004 |
Journal: |
Genome Res |
Title: |
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |
Volume: |
14 |
Issue: |
10B |
Pages: |
2121-7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI) |
Year: |
2008 |
Journal: |
Database Download |
Title: |
Mouse Gene Trap Data Load from dbGSS |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Chromosome assignment of mouse genes using the Mouse Genome Sequencing Consortium (MGSC) assembly and the ENSEMBL Database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Kawai J |
Year: |
2001 |
Journal: |
Nature |
Title: |
Functional annotation of a full-length mouse cDNA collection. |
Volume: |
409 |
Issue: |
6821 |
Pages: |
685-90 |
|
•
•
•
•
•
|
Publication |
First Author: |
Huttlin EL |
Year: |
2010 |
Journal: |
Cell |
Title: |
A tissue-specific atlas of mouse protein phosphorylation and expression. |
Volume: |
143 |
Issue: |
7 |
Pages: |
1174-89 |
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2010 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Church DM |
Year: |
2009 |
Journal: |
PLoS Biol |
Title: |
Lineage-specific biology revealed by a finished genome assembly of the mouse. |
Volume: |
7 |
Issue: |
5 |
Pages: |
e1000112 |
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