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Search results 101 to 121 out of 121 for Sh3tc2

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0.017s
Type Details Score
Allele
Name: SH3 domain and tetratricopeptide repeats 2; endonuclease-mediated mutation 1, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Null/knockout
Allele
Name: SH3 domain and tetratricopeptide repeats 2; targeted mutation 1.1, Roman Chrast
Allele Type: Targeted
Attribute String: Null/knockout, Reporter
Genotype
Symbol: Sh3tc2/Sh3tc2
Background: involves: 129/Sv * FVB/N
Zygosity: hm
Has Mutant Allele: true
DO Term
Publication
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
Protein Domain
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.
Protein
Organism: Mus musculus/domesticus
Length: 947  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 610  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 995  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 1012  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 130  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 1289  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 749  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 1228  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 1346  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 1150  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 1147  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 1346  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 1346  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 749  
Fragment?: true
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