| Type |
Details |
Score |
| Genotype |
| Symbol: |
Frem2/Frem2<+> |
| Background: |
Not Specified |
| Zygosity: |
ht |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Frem3/Frem3 |
| Background: |
C57BL/6N-Frem3/BayMmucd |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Frem1/Frem1<+> |
| Background: |
involves: 129 * C57BL/6 |
| Zygosity: |
ht |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Frem1/Frem1<+> |
| Background: |
involves: 129 |
| Zygosity: |
ht |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Davisson MT |
| Year: |
1976 |
| Journal: |
J Hered |
| Title: |
Genes on chromosome 3 of the mouse. |
| Volume: |
67 |
| Issue: |
3 |
| Pages: |
155-6 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Eicher EM |
| Year: |
1980 |
| Journal: |
J Hered |
| Title: |
Assignment of LH XVI to chromosome 3 in the mouse. |
| Volume: |
71 |
| Issue: |
5 |
| Pages: |
315-8 |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
mutant strain, endonuclease-mediated mutation, coisogenic |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Frem2/Frem2 |
| Background: |
C57BL/6J-Frem2 Frem2 |
| Zygosity: |
ht |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Allele |
| Name: |
Fraser extracellular matrix complex subunit 1; targeted mutation 1, George Chalepakis |
| Allele Type: |
Targeted |
| Attribute String: |
Null/knockout, Reporter |
|
•
•
•
•
•
|
| Allele |
| Name: |
glutamate receptor interacting protein 1; targeted mutation 1, Ralf H Adams |
| Allele Type: |
Targeted |
| Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
| Allele |
| Name: |
Fraser extracellular matrix complex subunit 1; blood filled blisters |
| Allele Type: |
Chemically induced (ENU) |
| Attribute String: |
Altered localization |
|
•
•
•
•
•
|
| Allele |
| Name: |
Fraser extracellular matrix complex subunit 1; rounded foot |
| Allele Type: |
Chemically induced (ENU) |
| Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Fox S |
| Year: |
1977 |
| Journal: |
Mouse News Lett |
| Title: |
Er - Gpd-1 linkage. |
| Volume: |
57 |
|
| Pages: |
21 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Hentges KE |
| Year: |
2006 |
| Journal: |
Gene Expr Patterns |
| Title: |
Novel lethal mouse mutants produced in balancer chromosome screens. |
| Volume: |
6 |
| Issue: |
6 |
| Pages: |
653-65 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
The Mouse Genome Project at The Baylor College of Medicine |
| Year: |
2004 |
| Journal: |
MGI Direct Data Submission |
| Title: |
Heritable mouse mutants from the Mouse Mutagenesis for Developmental Defects Program |
|
|
|
|
•
•
•
•
•
|
| Protein Domain |
| Type: |
Family |
| Description: |
FREM1 (FRAS1-related extracellular matrix protein 1) is an extracellular matrix protein that forms a ternary complex in the basement membrane with FRAS1 and FREM2 during epidermal development []. FREM1 also appears to act as a dermal mediator of basement membrane adhesion independently of the FRAS1 []. Mutations in the FREM1 gene cause two rare syndromes - bifid nose with or without anorectal and renal anomalies syndrome (BNAR; OMIM #608980) and Manitoba oculotrichoanal syndrome (MOTA; OMIM #248450) - whose phenotypic characteristics overlap those seen in individuals with Fraser syndrome []. |
|
•
•
•
•
•
|
| Allele |
| Name: |
Fraser extracellular matrix complex subunit 1; blebbed |
| Allele Type: |
Radiation induced |
|
|
•
•
•
•
•
|
| Allele |
| Name: |
glutamate receptor interacting protein 1; eye blebs |
| Allele Type: |
Spontaneous |
|
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
Koo HY |
| Year: |
2024 |
| Journal: |
Dev Dyn |
| Title: |
Analysis of Meis2 knockout mice reveals Sonic hedgehog-mediated patterning of the cochlear duct. |
|
|
|
|
•
•
•
•
•
|
| 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 |
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•
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| Publication |
| First Author: |
Velocigene |
| Year: |
2008 |
| Journal: |
MGI Direct Data Submission |
| Title: |
Alleles produced for the KOMP project by Velocigene (Regeneron Pharmaceuticals) |
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•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2002 |
|
| Title: |
MGC Data curation in Mouse Genome Informatics |
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•
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•
•
•
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| 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 |
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•
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•
•
•
|
| 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 |
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•
•
•
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| 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 |
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•
•
•
•
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| 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) |
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