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Search results 501 to 527 out of 527 for Frem2

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Type Details Score
Genotype
Genotype
Symbol: Frem1/Frem1
Background: involves: C57BL/6J
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Frem1/Frem1
Background: involves: AKR/J
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Frem2/Frem2
Background: STOCK Frem2/GrsrJ
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Fras1/Fras1
Background: involves: 129S1/Sv * 129X1/SvJ * NMRI
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Frem2/Frem2
Background: C57BL/6J-Frem2
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Fras1/Fras1
Background: involves: C57BL/6JAnu
Zygosity: hm
Has Mutant Allele: true
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DO Term
DOID:0090001 | Fraser syndrome
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Genotype
Genotype
Symbol: Frem2/Frem2
Background: MY/HuLeJ
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Frem3/Frem3
Background: involves: C57BL/6NJcl * DBA/2NJcl
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Fras1/Fras1
Background: involves: C57BL/6J * FVB/NJ
Zygosity: hm
Has Mutant Allele: true
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Protein Domain
IPR032825 | FREM1
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 [].
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Protein Coding Gene
MGI:2385368 | Fras1
Type: protein_coding_gene
Organism: mouse, laboratory
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Genotype
Genotype
Symbol: Fras1/Fras1
Background: involves: 101/H * C3H/HeH
Zygosity: hm
Has Mutant Allele: true
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Protein Coding Gene
MGI:1921303 | Grip1
Type: protein_coding_gene
Organism: mouse, laboratory
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Genotype
Genotype
Symbol: Frem1/Frem1
Background: C57BL/6J-Frem1
Zygosity: hm
Has Mutant Allele: true
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Publication
21182980 | -
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
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Publication
31554749 | J:291067
First Author: Kiyozumi D
Year: 2020
Journal: Exp Anim
Title: Genetic mutation of Frem3 does not causeFraser syndrome in mice.
Volume: 69
Issue: 1
Pages: 104-109
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Protein Coding Gene
MGI:2670972 | Frem1
Type: protein_coding_gene
Organism: mouse, laboratory
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Publication
15345741 | J:92613
First Author: Smyth I
Year: 2004
Journal: Proc Natl Acad Sci U S A
Title: The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis.
Volume: 101
Issue: 37
Pages: 13560-5
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Protein
F7D5I3
Organism: Mus musculus/domesticus
Length: 415  
Fragment?: true
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Publication
24232570 | J:208091
First Author: Richardson RJ
Year: 2014
Journal: J Invest Dermatol
Title: AMACO is a component of the basement membrane-associated Fraser complex.
Volume: 134
Issue: 5
Pages: 1313-1322
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Publication
21507892 | J:200884
First Author: Slavotinek AM
Year: 2011
Journal: J Med Genet
Title: Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
Volume: 48
Issue: 6
Pages: 375-82
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Protein
Q5H8B9
Organism: Mus musculus/domesticus
Length: 2123  
Fragment?: false
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Protein
F8WHZ0
Organism: Mus musculus/domesticus
Length: 2127  
Fragment?: false
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Protein
Q684R7
Organism: Mus musculus/domesticus
Length: 2191  
Fragment?: false
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Protein
A2ADN1
Organism: Mus musculus/domesticus
Length: 2172  
Fragment?: false
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Protein
E9Q5Z7
Organism: Mus musculus/domesticus
Length: 2173  
Fragment?: false
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