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Search results 101 to 123 out of 123 for Sh3tc2

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Type Details Score
Publication
27068304 | -
First Author: Vijay S
Year: 2016
Journal: Biochim Biophys Acta
Title: Exclusive expression of the Rab11 effector SH3TC2 in Schwann cells links integrin-α6 and myelin maintenance to Charcot-Marie-Tooth disease type 4C.
Volume: 1862
Issue: 7
Pages: 1279-90
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Allele
Sh3tc2<em1Smoc> | MGI:7292292
Name: SH3 domain and tetratricopeptide repeats 2; endonuclease-mediated mutation 1, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Null/knockout
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Strain
MGI:6476264 | C57BL/6JSmoc-Sh3tc2<em1Smoc>/Smoc
Attribute String: coisogenic, endonuclease-mediated mutation, mutant strain
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Allele
Sh3tc2<tm1.1Rchr> | MGI:4367025
Name: SH3 domain and tetratricopeptide repeats 2; targeted mutation 1.1, Roman Chrast
Allele Type: Targeted
Attribute String: Null/knockout, Reporter
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Genotype
Genotype
Symbol: Sh3tc2/Sh3tc2
Background: involves: 129/Sv * FVB/N
Zygosity: hm
Has Mutant Allele: true
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DO Term
DOID:0110183 | Charcot-Marie-Tooth disease type 4C
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Publication
14574644 | -
First Author: Senderek J
Year: 2003
Journal: Am J Hum Genet
Title: Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.
Volume: 73
Issue: 5
Pages: 1106-19
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Protein Domain
IPR042772 | SH3TC1/SH3TC2
Type: Family
Description: This entry includes SH3TC1 and SH3TC2. SH3TC2 is an effector of Rab11 in Schwann cells []. Mutations of the SH3TC2 gene cause Charcot-Marie-Tooth disease 4C (CMT4C), a recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterised by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms []. The function of SH3TC1 is not clear.
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Protein
Q69Z49
Organism: Mus musculus/domesticus
Length: 947  
Fragment?: true
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Protein
A1A4B6
Organism: Mus musculus/domesticus
Length: 610  
Fragment?: true
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Protein
A0A494BAH3
Organism: Mus musculus/domesticus
Length: 995  
Fragment?: true
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Protein
Q6KAR4
Organism: Mus musculus/domesticus
Length: 1012  
Fragment?: true
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Protein
F6QD49
Organism: Mus musculus/domesticus
Length: 130  
Fragment?: true
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Protein
Q80VA5
Organism: Mus musculus/domesticus
Length: 1289  
Fragment?: false
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Protein
Q3TBH5
Organism: Mus musculus/domesticus
Length: 749  
Fragment?: true
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Protein
Q3UPD8
Organism: Mus musculus/domesticus
Length: 1228  
Fragment?: false
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Protein
G3X9F6
Organism: Mus musculus/domesticus
Length: 1346  
Fragment?: false
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Protein
Q8R1A5
Organism: Mus musculus/domesticus
Length: 1150  
Fragment?: true
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Protein
F6U4F1
Organism: Mus musculus/domesticus
Length: 1147  
Fragment?: true
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Protein
Q3TXV8
Organism: Mus musculus/domesticus
Length: 1346  
Fragment?: false
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Protein
Q3UDI4
Organism: Mus musculus/domesticus
Length: 1346  
Fragment?: false
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Protein
Q3TD36
Organism: Mus musculus/domesticus
Length: 749  
Fragment?: true
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Publication
15489334 | -
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
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